Varaico: Literature-Extracted Genetic Variants

Gene:TTYH1
Variant:p.R382P

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
2 papers
NM_020659.4
p.R382P
c.1145G>C
Surrounding Variants
1 paper
NM_020659.4
p.E386K
c.1156G>A
1 paper
NM_020659.4
p.S412delFs
c.1234delA
1 paper
NM_020659.4
p.T429R
c.1286C>G
1 paper
NM_020659.4
p.F435L
c.1303T>C
1 paper
NM_020659.4
p.F435L
c.1305C>A
1 paper
NM_020659.4
p.F435L
c.1305C>G
1 paper
NM_020659.4
p.S440F
c.1319C>T
1 paper
NM_020659.4
p.H374R
c.1121A>G
1 paper
NM_020659.4
p.P346L
c.1037C>T
1 paper
NM_020659.4
p.S342L
c.1025C>T
1 paper
NM_020659.4
p.R314R
c.940A>C
1 paper
NM_020659.4
p.A306D
c.917C>A
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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."