Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD62

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
1–12 of 158 variants
4 papers
NM_001277333.2
p.A188S
c.562G>T
4 papers
NM_001277333.2
p.E406K
c.1216G>A
3 papers
NM_001277333.2
p.C265R
c.793T>C
3 papers
NM_001277333.2
p.L899S
c.2696T>C
2 papers
NM_001277333.2
p.Q491E
c.1471C>G
2 papers
NM_001277333.2
p.A613T
c.1837G>A
2 papers
NM_001277333.2
p.R670P
c.2009G>C
1 paper
NM_001277333.2
p.M1insFs
c.1_2insG
1 paper
NM_001277333.2
p.M1_E2insG
c.1_5ins3
1 paper
NM_001277333.2
p.M1L
c.1A>C
1 paper
NM_001277333.2
p.M1V
c.1A>G
1 paper
NM_001277333.2
p.M1L
c.1A>T
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