Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD20A1
Variant:p.R68Splc

ANKRD20A1

41 papers

Pfam Domains

Ank_2aa 37–130UCSCAnkyrin repeats (3 copies)
Ank_2aa 128–196UCSCAnkyrin repeats (3 copies)
Ankaa 199–230UCSCAnkyrin repeat
CCDC144Caa 497–815UCSCCCDC144C protein coiled-coil region

Gene Aliases

HGNC Name

ankyrin repeat domain 20 family member A1

HGNC Alias Symbol

DKFZp434A171

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032250.5
p.R68Splc
c.203+19G>A
Surrounding Variants
3 papers
NM_032250.5
p.R68Splc
c.203+1G>A
5 papers
NM_032250.5
p.D64N
c.190G>A
1 paper
NM_032250.5
p.L60L
c.180G>A
1 paper
NM_032250.5
p.S57S
c.171C>T
2 papers
NM_032250.5
p.E48G
c.143A>G
1 paper
NM_032250.5
p.K43K
c.129A>G
1 paper
NM_032250.5
p.G26fs
c.76_77fs
1 paper
NM_032250.5
p.G26fs
c.76_77fs
1 paper
NM_032250.5
p.S25fs
c.73_74fs
2 papers
NM_032250.5
p.S25Fs
c.73_74delinsTFs
1 paper
NM_032250.5
p.T23R
c.68C>G
3 papers
NM_032250.5
p.D19E
c.57C>A
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