Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD62
Variant:p.E723K

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.E723K
c.2167G>A
Surrounding Variants
1 paper
NM_001277333.2
p.L720F
c.2158C>T
1 paper
NM_001277333.2
p.H733Y
c.2197C>T
1 paper
NM_001277333.2
p.S711T
c.2132G>C
1 paper
NM_001277333.2
p.E710A
c.2129A>C
1 paper
NM_001277333.2
p.Q745H
c.2235G>C
1 paper
NM_001277333.2
p.Q745H
c.2235G>T
1 paper
NM_001277333.2
p.Q700E
c.2098C>G
1 paper
NM_001277333.2
p.Q678L
c.2033A>T
2 papers
NM_001277333.2
p.R670P
c.2009G>C
1 paper
NM_001277333.2
p.Q778E
c.2332C>G
1 paper
NM_001277333.2
p.R794C
c.2380C>T
1 paper
NM_001277333.2
p.R794H
c.2381G>A
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