Varaico: Literature-Extracted Genetic Variants

Gene:ERMAP
Variant:p.G403insFs

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
2 papers
NM_001017922.2
p.G403insFs
c.1208_1209insA
Surrounding Variants
2 papers
NM_001017922.2
p.G403E
c.1208G>A
1 paper
NM_001017922.2
p.G403fs
c.1207_1208fs
1 paper
NM_001017922.2
p.K404E
c.1210A>G
1 paper
NM_001017922.2
p.P408L
c.1223C>T
1 paper
NM_001017922.2
p.R392H
c.1175G>A
1 paper
NM_001017922.2
p.R392C
c.1174C>T
1 paper
NM_001017922.2
p.P424_P426del3
c.1270_1277del9
1 paper
NM_001017922.2
p.F371L
c.1113C>A
1 paper
NM_001017922.2
p.F371L
c.1113C>G
1 paper
NM_001017922.2
p.F371L
c.1111T>C
1 paper
NM_001017922.2
p.S437F
c.1310C>T
1 paper
NM_001017922.2
p.E365A
c.1094A>C
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