Varaico: Literature-Extracted Genetic Variants

Gene:ERMAP
Variant:p.L42delFs

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.L42delFs
c.124_125delCT
Surrounding Variants
1 paper
NM_001017922.2
p.L42V
c.124C>G
1 paper
NM_001017922.2
p.L41R
c.122T>G
1 paper
NM_001017922.2
p.L41L
c.121C>T
3 papers
NM_001017922.2
p.E47K
c.139G>A
4 papers
NM_001017922.2
p.G35S
c.103G>A
1 paper
NM_001017922.2
p.C50C
c.150C>T
1 paper
NM_001017922.2
p.G32E
c.95G>A
1 paper
NM_001017922.2
p.L52F
c.154C>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.T58M
c.173C>T
1 paper
NM_001017922.2
p.T58T
c.174G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."