Varaico: Literature-Extracted Genetic Variants

Gene:TTYH3
Variant:p.G290V

TTYH3

50 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 7–436UCSCTweety

Gene Aliases

HGNC Name

tweety family member 3

HGNC Alias Symbol

KIAA1691

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025250.3
p.G290V
c.869G>T
Surrounding Variants
1 paper
NM_025250.3
p.M281K
c.842T>A
1 paper
NM_025250.3
p.A256V
c.767C>T
1 paper
NM_025250.3
p.L214M
c.640C>A
1 paper
NM_025250.3
p.G212G
c.636C>A
1 paper
NM_025250.3
p.D291Splc
c.872-167C>A
1 paper
NM_025250.3
p.A167A
c.501C>T
1 paper
NM_025250.3
p.R166*
c.496C>T
1 paper
NM_025250.3
p.E163D
c.489G>C
1 paper
NM_025250.3
p.E163D
c.489G>T
1 paper
NM_025250.3
p.R156W
c.466C>T
1 paper
NM_025250.3
p.V141A
c.422T>C
1 paper
NM_025250.3
p.R135C
c.403C>T
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