Varaico: Literature-Extracted Genetic Variants

Gene:IFITM5
Variant:p.L103R

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.L103R
c.308T>G
Surrounding Variants
1 paper
NM_001025295.3
p.G102delFs
c.306delC
1 paper
NM_001025295.3
p.G102fs
c.304_305fs
1 paper
NM_001025295.3
p.L101R
c.302T>G
1 paper
NM_001025295.3
p.P96_L100delFs
c.287_300del14
1 paper
NM_001025295.3
p.P96_L101del0
c.287_301del15
1 paper
NM_001025295.3
p.L99insFs
c.296_297insC
1 paper
NM_001025295.3
p.L98P
c.293T>C
1 paper
NM_001025295.3
p.A108D
c.323C>A
2 papers
NM_001025295.3
p.D117H
c.349G>C
1 paper
NM_001025295.3
p.I87N
c.260T>A
1 paper
NM_001025295.3
p.A119V
c.356C>T
1 paper
NM_001025295.3
p.G107_S118del0
c.321_353del33
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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."