Varaico: Literature-Extracted Genetic Variants

Gene:ERMAP
Variant:p.E62V

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001017922.2
p.E62V
c.185A>T
Surrounding Variants
2 papers
NM_001017922.2
p.E62*
c.184G>T
3 papers
NM_001017922.2
p.P60A
c.178C>G
1 paper
NM_001017922.2
p.T58T
c.174G>A
1 paper
NM_001017922.2
p.T58M
c.173C>T
11 papers
NM_001017922.2
p.G57R
c.169G>A
8 papers
NM_001017922.2
p.G57R
c.169G>C
1 paper
NM_001017922.2
p.L52F
c.154C>T
4 papers
NM_001017922.2
p.R73C
c.217C>T
1 paper
NM_001017922.2
p.R73delins
c.217_219delinsTGT
1 paper
NM_001017922.2
p.R73R
c.219C>T
1 paper
NM_001017922.2
p.C50C
c.150C>T
1 paper
NM_001017922.2
p.Q75R
c.224A>G
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