Varaico: Literature-Extracted Genetic Variants

Gene:IFITM5
Variant:p.P31T

IFITM5

113 papers

RefSeq Summary

This gene encodes a membrane protein thought to play a role in bone mineralization. This gene is located on chromosome 11 in a cluster of related genes which are induced by interferon, however, this g...

Pfam Domains

CD225aa 31–100UCSCInterferon-induced transmembrane protein

Gene Aliases

HGNC Name

interferon induced transmembrane protein 5

HGNC Alias Symbols

fragilis4; Hrmp1; BRIL; DSPA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001025295.3
p.P31T
c.91C>A
Surrounding Variants
1 paper
NM_001025295.3
p.P32fs
c.94_95fs
1 paper
NM_001025295.3
p.P29L
c.86C>T
2 papers
NM_001025295.3
p.P29Q
c.86C>A
4 papers
NM_001025295.3
p.G27A
c.80G>C
1 paper
NM_001025295.3
p.D35E
c.105C>A
1 paper
NM_001025295.3
p.L37S
c.110T>C
59 papers
NM_001025295.3
p.S40L
c.119C>T
10 papers
NM_001025295.3
p.S40W
c.119C>G
2 papers
NM_001025295.3
p.A18D
c.53C>A
1 paper
NM_001025295.3
p.T44P
c.130A>C
1 paper
NM_001025295.3
p.K17*
c.49A>T
5 papers
NM_001025295.3
p.N48S
c.143A>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."