Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS13
Variant:p.Q83_R88del6

TMPRSS13

82 papers

RefSeq Summary

This gene encodes a member of the type II transmembrane serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-ri...

Pfam Domains

SRCR_2aa 231–321UCSCScavenger receptor cysteine-rich domain

Gene Aliases

HGNC Name

transmembrane serine protease 13

HGNC Previous Symbol

TMPRSS11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001077263.3
p.Q83_R88del6
c.247_263del18
Surrounding Variants
1 paper
NM_001077263.3
p.R88L
c.263G>T
1 paper
NM_001077263.3
p.R88Q
c.263G>A
9 papers
NM_001077263.3
p.Q83_R88del0
c.248_262del15
1 paper
NM_001077263.3
p.S90C
c.269C>G
1 paper
NM_001077263.3
p.P86del1
c.256_257delTGG
1 paper
NM_001077263.3
p.P86P
c.258A>G
1 paper
NM_001077263.3
p.P86fs
c.256_257fs
3 papers
NM_001077263.3
p.P86delFs
c.256_257delGG
3 papers
NM_001077263.3
p.P81_S85delFs
c.242_254del13
8 papers
NM_001077263.3
p.Q83R
c.248A>G
1 paper
NM_001077263.3
p.Q83*
c.247C>T
1 paper
NM_001077263.3
p.P81fs
c.241_242fs
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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."