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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERMAP

ERMAP

86 papers

RefSeq Summary

The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible...

Pfam Domains

V-setaa 37–144UCSCImmunoglobulin V-set domain

PRYaa 240–288UCSCSPRY-associated domain

SPRYaa 292–408UCSCSPRY domain

Gene Aliases

HGNC Name

erythroblast membrane associated protein

HGNC Alias Symbol

BTN5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 118 variants

17 papers

chr1:42830524 C>T

NM_001017922.2

p.H26Y

c.76C>T

Exome: 26.5% (AC=387461, hom=54464)Genome: 21.2% (AC=32258, hom=4385)162 overlapping SVs

11 papers

chr1:42830851 G>A

NM_001017922.2

p.G57R

c.169G>A

V-set

Exome: 0.3% (AC=4073, hom=8)Genome: 0.2% (AC=280, hom=0)162 overlapping SVs

8 papers

chr1:42830851 G>C

NM_001017922.2

p.G57R

c.169G>C

V-set

exact variant not in gnomAD162 overlapping SVs

5 papers

chr1:42830502 C>T

NM_001017922.2

p.L18L

c.54C>T

Exome: 23.8% (AC=347185, hom=43434)Genome: 20.4% (AC=31052, hom=3663)162 overlapping SVs

5 papers

chr1:42842592 G>A

NM_001017922.2

p.G263E

c.788G>A

PRY

Exome: 0.3% (AC=4906, hom=10)Genome: 0.2% (AC=308, hom=0)163 overlapping SVs

5 papers

chr1:42842780 A>G

NM_001017922.2

p.N326D

c.976A>G

SPRY

Exome: 0.2% (AC=3276, hom=68)Genome: 0.2% (AC=313, hom=4)163 overlapping SVs

5 papers

chr1:42842798 C>T

NM_001017922.2

p.R332*

c.994C>T

SPRY

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=2, hom=0)163 overlapping SVs

4 papers

chr1:42830785 G>A

NM_001017922.2

p.G35S

c.103G>A

Exome: 0.5% (AC=6384, hom=37)Genome: 0.4% (AC=651, hom=9)162 overlapping SVs

4 papers

chr1:42830899 C>T

NM_001017922.2

p.R73C

c.217C>T

V-set

Exome: 0.0% (AC=388, hom=0)Genome: 0.3% (AC=415, hom=3)162 overlapping SVs

3 papers

chr1:42830459 C>T

NM_001017922.2

p.A4V

c.11C>T

Exome: 0.2% (AC=2650, hom=73)Genome: 1.6% (AC=2391, hom=71)162 overlapping SVs

3 papers

chr1:42830821 G>A

NM_001017922.2

p.E47K

c.139G>A

V-set

Exome: 0.1% (AC=822, hom=1)Genome: 0.1% (AC=113, hom=0)162 overlapping SVs

3 papers

chr1:42830860 C>G

NM_001017922.2

p.P60A

c.178C>G

V-set

Exome: 0.1% (AC=773, hom=2)Genome: 0.0% (AC=65, hom=0)162 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."