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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC4A5

Variant:p.K48E

SLC4A5

103 papers

RefSeq Summary

This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH reg...

Pfam Domains

Band_3_cytoaa 111–407UCSCBand 3 cytoplasmic domain

HCO3_cotranspaa 493–1074UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 5

HGNC Alias Symbol

NBC4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:74304618 T>C

NM_133478.3

p.K48E

c.142A>G

exact variant not in gnomAD140 overlapping SVs

Surrounding Variants

1 paper

chr2:74304597 G>A

NM_133478.3

p.Q55*

c.163C>T

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=2, hom=0)140 overlapping SVs

1 paper

chr2:74304594 T>C

NM_133478.3

p.K56E

c.166A>G

exact variant not in gnomAD140 overlapping SVs

2 papers

chr2:74304573 GCCGCAGGCC>G

NM_133478.3

p.G60_R62del3

c.178_185del9

exact variant not in gnomAD140 overlapping SVs

1 paper

chr2:74304669 T>C

NM_133478.3

p.I31V

c.91A>G

Exome: 0.0% (AC=6, hom=0)Genome: n/a140 overlapping SVs

1 paper

chr2:74304558 G>C

NM_133478.3

p.Q68E

c.202C>G

Exome: 0.0% (AC=38, hom=0)Genome: 0.0% (AC=4, hom=0)140 overlapping SVs

1 paper

chr2:74304524 C>T

NM_133478.3

p.S79N

c.236G>A

exact variant not in gnomAD140 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."