Varaico: Literature-Extracted Genetic Variants

Gene:TTYH2

TTYH2

44 papers

RefSeq Summary

This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chlo...

Pfam Domains

Tweetyaa 9–439UCSCTweety

Gene Aliases

HGNC Name

tweety family member 2

HGNC Alias Symbol

C17orf29

Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
4 papers
NM_032646.6
p.D423E
c.1269C>A
4 papers
NM_032646.6
p.D423E
c.1269C>G
3 papers
NM_032646.6
p.T419I
c.1256C>T
2 papers
NM_032646.6
p.R156Q
c.467G>A
2 papers
NM_032646.6
p.M177I
c.531G>A
2 papers
NM_032646.6
p.M177I
c.531G>C
2 papers
NM_032646.6
p.M177I
c.531G>T
2 papers
NM_032646.6
p.M245I
c.735G>A
2 papers
NM_032646.6
p.M245I
c.735G>C
2 papers
NM_032646.6
p.M245I
c.735G>T
2 papers
NM_032646.6
p.G501R
c.1501G>A
2 papers
NM_032646.6
p.G501R
c.1501G>C
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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."