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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC9B1

SLC9B1

73 papers

RefSeq Summary

The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this ge...

Pfam Domains

Na_H_Exchangeraa 98–491UCSCSodium/hydrogen exchanger, transmembrane

Gene Aliases

HGNC Name

solute carrier family 9 member B1

HGNC Previous Symbol

NHEDC1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 51 variants

16 papers

chr4:102905612 G>A

NM_139173.4

p.R412*

c.1234C>T

Na_H_Exchanger

Exome: 0.2% (AC=2328, hom=0)Genome: 0.5% (AC=638, hom=0)97 overlapping SVs

11 papers

chr4:102905600 T>C

NM_139173.4

p.T416A

c.1246A>G

Na_H_Exchanger

Exome: 0.2% (AC=2798, hom=0)Genome: 0.7% (AC=881, hom=0)97 overlapping SVs

11 papers

chr4:102905528 T>A

NM_139173.4

p.K440*

c.1318A>T

Na_H_Exchanger

Exome: 0.1% (AC=749, hom=0)Genome: 0.1% (AC=115, hom=0)97 overlapping SVs

8 papers

chr4:102946756 A>T

NM_139173.4

p.V139D

c.416T>A

Na_H_Exchanger

exact variant not in gnomAD96 overlapping SVs

7 papers

chr4:102901325 AAC>A

NM_139173.4

p.V446_L447delFs

c.1338_1339delAC

Na_H_Exchanger

Exome: 10.2% (AC=93463, hom=0)Genome: 34.1% (AC=24763, hom=0)99 overlapping SVs

5 papers

chr4:102911454 G>A

NM_139173.4

p.R305*

c.913C>T

Na_H_Exchanger

Exome: 3.9% (AC=43224, hom=0)Genome: 0.2% (AC=320, hom=0)98 overlapping SVs

4 papers

chr4:102911530 T>C

NM_139173.4

p.I279M

c.837A>G

Na_H_Exchanger

Exome: 1.6% (AC=17254, hom=0)Genome: 0.1% (AC=76, hom=0)98 overlapping SVs

4 papers

chr4:102911508 T>C

NM_139173.4

p.I287V

c.859A>G

Na_H_Exchanger

Exome: 1.6% (AC=17772, hom=0)Genome: 0.1% (AC=179, hom=0)98 overlapping SVs

4 papers

chr4:102911493 T>A

NM_139173.4

p.I292F

c.874A>T

Na_H_Exchanger

Exome: 2.7% (AC=29956, hom=0)Genome: 0.1% (AC=204, hom=0)98 overlapping SVs

4 papers

chr4:102901326 TAA>N

NM_139173.4

p.L447fs

c.1339_1340fs

Na_H_Exchanger

exact variant not in gnomAD99 overlapping SVs

4 papers

chr4:102901247 G>A

NM_139173.4

p.A473V

c.1418C>T

Na_H_Exchanger

Exome: 49.9% (AC=672462, hom=0)Genome: 49.6% (AC=56067, hom=0)98 overlapping SVs

3 papers

chr4:102911499 C>T

NM_139173.4

p.V290I

c.868G>A

Na_H_Exchanger

Exome: 0.0% (AC=51, hom=0)Genome: 0.0% (AC=3, hom=0)98 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."