Varaico: Literature-Extracted Genetic Variants

Gene:ANO2
Variant:p.H164Y

ANO2

83 papers

RefSeq Summary

ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011].

Pfam Domains

Anoct_dimeraa 91–349UCSCAnoctamin, dimerisation domain
Anoctaminaa 352–942UCSCCalcium-activated chloride channel

Gene Aliases

HGNC Name

anoctamin 2

HGNC Previous Symbols

C12orf3; TMEM16B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001364791.2
p.H164Y
c.490C>T
Surrounding Variants
1 paper
NM_001364791.2
p.E157K
c.469G>A
1 paper
NM_001364791.2
p.D149N
c.445G>A
1 paper
NM_001364791.2
p.P147L
c.440C>T
1 paper
NM_001364791.2
p.P147S
c.439C>T
1 paper
NM_001364791.2
p.T131I
c.392C>T
1 paper
NM_001364791.2
p.V126I
c.376G>A
2 papers
NM_001364791.2
p.V112A
c.335T>C
1 paper
NM_001364791.2
p.R110C
c.328C>T
1 paper
NM_001364791.2
p.D100N
c.298G>A
1 paper
NM_001364791.2
p.R97K
c.290G>A
1 paper
NM_001364791.2
p.S68C
c.202A>T
1 paper
NM_001364791.2
p.P46L
c.137C>T
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