Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD62
Variant:p.C265R

ANKRD62

42 papers

Pfam Domains

Ank_2aa 86–168UCSCAnkyrin repeats (3 copies)
Ank_2aa 175–267UCSCAnkyrin repeats (3 copies)
CCDC144Caa 541–905UCSCCCDC144C protein coiled-coil region

Gene Aliases

HGNC Name

ankyrin repeat domain 62

HGNC Alias Symbol

DKFZp779B1634

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001277333.2
p.C265R
c.793T>C
Surrounding Variants
1 paper
NM_001277333.2
p.A261E
c.782C>A
1 paper
NM_001277333.2
p.K260E
c.778A>G
1 paper
NM_001277333.2
p.M255I
c.765G>T
1 paper
NM_001277333.2
p.R253fs
c.757_758fs
1 paper
NM_001277333.2
p.I252M
c.756T>G
1 paper
NM_001277333.2
p.Q250K
c.748C>A
1 paper
NM_001277333.2
p.D242V
c.725A>T
1 paper
NM_001277333.2
p.S236P
c.706T>C
1 paper
NM_001277333.2
p.D229H
c.685G>C
1 paper
NM_001277333.2
p.Q225P
c.674A>C
1 paper
NM_001277333.2
p.S218C
c.652A>T
1 paper
NM_001277333.2
p.T206T
c.618A>T
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