Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD62
Variant:p.E126D

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
1 paper
NM_001277333.2
p.E126D
c.378A>T
Surrounding Variants
1 paper
NM_001277333.2
p.E126D
c.378A>C
1 paper
NM_001277333.2
p.H127R
c.380A>G
1 paper
NM_001277333.2
p.E126K
c.376G>A
1 paper
NM_001277333.2
p.V119A
c.356T>C
1 paper
NM_001277333.2
p.E117A
c.350A>C
1 paper
NM_001277333.2
p.T140S
c.418A>T
1 paper
NM_001277333.2
p.A141T
c.421G>A
1 paper
NM_001277333.2
p.A112fs
c.334_335fs
1 paper
NM_001277333.2
p.I146I
c.438T>A
1 paper
NM_001277333.2
p.I146M
c.438T>G
1 paper
NM_001277333.2
p.D147E
c.441T>A
1 paper
NM_001277333.2
p.D147E
c.441T>G
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