Varaico: Literature-Extracted Genetic Variants

Gene:TM4SF5
Variant:p.D188Y

TM4SF5

21 papers

RefSeq Summary

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the pre...

Pfam Domains

L6_membraneaa 1–190UCSCL6 membrane protein

Gene Aliases

HGNC Name

transmembrane 4 L six family member 5

HGNC Previous Name

transmembrane 4 superfamily member 5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003963.3
p.D188Y
c.562G>T
Surrounding Variants
1 paper
NM_003963.3
p.D188_C189insA
c.562_566ins3
1 paper
NM_003963.3
p.D188A
c.563A>C
1 paper
NM_003963.3
p.A180E
c.539C>A
1 paper
NM_003963.3
p.L172P
c.515T>C
1 paper
NM_003963.3
p.S160*
c.479C>A
1 paper
NM_003963.3
p.P196L
c.587C>T
1 paper
NM_003963.3
p.A132V
c.395C>T
1 paper
NM_003963.3
p.G125D
c.374G>A
1 paper
NM_003963.3
p.R69Q
c.206G>A
1 paper
NM_003963.3
p.R69W
c.205C>T
2 papers
NM_003963.3
p.P63P
c.189G>A
1 paper
NM_003963.3
p.P63insFs
c.188_189insA
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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."