Varaico: Literature-Extracted Genetic Variants

Gene:TTYH1
Variant:p.V90A

TTYH1

42 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+)-independent, volume-sensitive la...

Pfam Domains

Tweetyaa 8–442UCSCTweety

Gene Aliases

HGNC Name

tweety family member 1

HGNC Previous Names

tweety (Drosophila) homolog 1; tweety homolog 1 (Drosophila)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020659.4
p.V90A
c.269T>C
Surrounding Variants
2 papers
NM_020659.4
p.G86R
c.256G>A
2 papers
NM_020659.4
p.G86R
c.256G>C
1 paper
NM_020659.4
p.A97V
c.290C>T
1 paper
NM_020659.4
p.P78S
c.232C>T
1 paper
NM_020659.4
p.P74T
c.220C>A
1 paper
NM_020659.4
p.I62I
c.186C>T
1 paper
NM_020659.4
p.G118E
c.353G>A
1 paper
NM_020659.4
p.A129G
c.386C>G
1 paper
NM_020659.4
p.T132I
c.395C>T
2 papers
NM_020659.4
p.R165C
c.493C>T
1 paper
NM_020659.4
p.T166M
c.497C>T
1 paper
NM_020659.4
p.R176*
c.526C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."