Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD62
Variant:p.K591R

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.K591R
c.1772A>G
Surrounding Variants
1 paper
NM_001277333.2
p.D592N
c.1774G>A
1 paper
NM_001277333.2
p.E584K
c.1750G>A
1 paper
NM_001277333.2
p.L607F
c.1819C>T
1 paper
NM_001277333.2
p.E574K
c.1720G>A
1 paper
NM_001277333.2
p.R609Q
c.1826G>A
2 papers
NM_001277333.2
p.A613T
c.1837G>A
1 paper
NM_001277333.2
p.R620W
c.1858C>T
1 paper
NM_001277333.2
p.K623N
c.1869A>C
1 paper
NM_001277333.2
p.K623N
c.1869A>T
1 paper
NM_001277333.2
p.E642K
c.1924G>A
1 paper
NM_001277333.2
p.K643*
c.1927A>T
2 papers
NM_001277333.2
p.R670P
c.2009G>C
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