Varaico: Literature-Extracted Genetic Variants

Gene:TTYH2
Variant:p.D166E

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
Selected Variant
1 paper
NM_032646.6
p.D166E
c.498T>A
Surrounding Variants
1 paper
NM_032646.6
p.D166E
c.498T>G
1 paper
NM_032646.6
p.D166N
c.496G>A
1 paper
NM_032646.6
p.Q169R
c.506A>G
2 papers
NM_032646.6
p.R156Q
c.467G>A
1 paper
NM_032646.6
p.R156R
c.466C>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
1 paper
NM_032646.6
p.Q152E
c.454C>G
1 paper
NM_032646.6
p.E151E
c.453G>A
1 paper
NM_032646.6
p.V208M
c.622G>A
1 paper
NM_032646.6
p.R237C
c.709C>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."