Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS11D
Variant:p.S245insFs

TMPRSS11D

192 papers

RefSeq Summary

This gene encodes a trypsin-like serine protease released from the submucosal serous glands onto mucous membrane. It is a type II integral membrane protein and has 29-38% identity in the sequence of t...

Pfam Domains

SEAaa 48–152UCSCSEA domain
Trypsinaa 187–412UCSCTrypsin

Gene Aliases

HGNC Name

transmembrane serine protease 11D

HGNC Alias Symbol

ASP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004262.3
p.S245insFs
c.734_735insC
Surrounding Variants
1 paper
NM_004262.3
p.T246K
c.737C>A
1 paper
NM_004262.3
p.T246T
c.738A>T
1 paper
NM_004262.3
p.L251L
c.751C>T
1 paper
NM_004262.3
p.R236C
c.706C>T
1 paper
NM_004262.3
p.P235S
c.703C>T
3 papers
NM_004262.3
p.S233F
c.698C>T
1 paper
NM_004262.3
p.N262D
c.784A>G
1 paper
NM_004262.3
p.T268_H269insFs
c.804_805insG
1 paper
NM_004262.3
p.D272A
c.815A>C
1 paper
NM_004262.3
p.E279K
c.835G>A
1 paper
NM_004262.3
p.F284delFs
c.852delA
1 paper
NM_004262.3
p.K286_D287insFs
c.858_859insG
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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."