Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS13
Variant:p.R280R

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
1 paper
NM_001077263.3
p.R280R
c.840G>A
Surrounding Variants
1 paper
NM_001077263.3
p.S287L
c.860C>T
1 paper
NM_001077263.3
p.C304C
c.912C>T
1 paper
NM_001077263.3
p.G324R
c.970G>C
1 paper
NM_001077263.3
p.G324R
c.970G>A
1 paper
NM_001077263.3
p.V327M
c.979G>A
1 paper
NM_001077263.3
p.T347I
c.1040C>T
1 paper
NM_001077263.3
p.C351Y
c.1052G>A
7 papers
NM_001077263.3
p.P248_T262del15
c.742_785del45
1 paper
NM_001077263.3
p.D256_S257del2
c.766_770del6
1 paper
NM_001077263.3
p.S257C
c.770C>G
1 paper
NM_001077263.3
p.S242_W254del13
c.724_761del39
1 paper
NM_001077263.3
p.W254C
c.762G>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."