Varaico: Literature-Extracted Genetic Variants

Gene:ITM2A
Variant:p.F180L

ITM2A

40 papers

RefSeq Summary

This gene encodes a type II membrane protein that belongs to the ITM2 family. Studies in mouse suggest that it may be involved in osteo- and chondrogenic differentiation. Alternatively spliced transcr...

Pfam Domains

BRICHOSaa 135–226UCSCBRICHOS domain

Gene Aliases

HGNC Name

integral membrane protein 2A

HGNC Alias Symbols

BRICD2A; E25A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004867.5
p.F180L
c.538T>C
Surrounding Variants
1 paper
NM_004867.5
p.F180L
c.540T>G
1 paper
NM_004867.5
p.F180L
c.540T>A
1 paper
NM_004867.5
p.A184V
c.551C>T
1 paper
NM_004867.5
p.P173Q
c.518C>A
1 paper
NM_004867.5
p.T167A
c.499A>G
1 paper
NM_004867.5
p.N166S
c.497A>G
1 paper
NM_004867.5
p.D154Y
c.460G>T
1 paper
NM_004867.5
p.P129H
c.386C>A
1 paper
NM_004867.5
p.R118C
c.352C>T
1 paper
NM_004867.5
p.V111L
c.331G>T
1 paper
NM_004867.5
p.V111L
c.331G>C
1 paper
NM_004867.5
p.F108V
c.322T>G
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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."