Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS5
Variant:p.Q14Q

TMPRSS5

53 papers

RefSeq Summary

This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. Alternative splicing results in mult...

Pfam Domains

SRCR_2aa 72–169UCSCScavenger receptor cysteine-rich domain
Trypsinaa 174–404UCSCTrypsin

Gene Aliases

HGNC Name

transmembrane serine protease 5

HGNC Alias Symbols

MGC141886; MGC148044

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_030770.4
p.Q14Q
c.42G>A
Surrounding Variants
1 paper
NM_030770.4
p.M11T
c.32T>C
1 paper
NM_030770.4
p.G23W
c.67G>T
1 paper
NM_030770.4
p.L3insFs
c.8_9insT
1 paper
NM_030770.4
p.A27V
c.80C>T
1 paper
NM_030770.4
p.A27E
c.80C>A
2 papers
NM_030770.4
p.D31V
c.92A>T
1 paper
NM_030770.4
p.H34R
c.101A>G
1 paper
NM_030770.4
p.R46Q
c.137G>A
2 papers
NM_030770.4
p.R47C
c.139C>T
1 paper
NM_030770.4
p.M45_L52delFs
c.135_154del20
1 paper
NM_030770.4
p.G60C
c.178G>T
1 paper
NM_030770.4
p.A61V
c.182C>T
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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."