Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD20A1
Variant:p.R200Q

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
2 papers
NM_032250.5
p.R200Q
c.599G>A
Surrounding Variants
1 paper
NM_032250.5
p.S192T
c.574T>A
1 paper
NM_032250.5
p.K188T
c.563A>C
1 paper
NM_032250.5
p.K188delins
c.563_564delinsCC
1 paper
NM_032250.5
p.F184L
c.552T>A
1 paper
NM_032250.5
p.F184L
c.552T>G
1 paper
NM_032250.5
p.F184L
c.550T>C
1 paper
NM_032250.5
p.A173V
c.518C>T
1 paper
NM_032250.5
p.A173T
c.517G>A
1 paper
NM_032250.5
p.T168I
c.503C>T
1 paper
NM_032250.5
p.K164_D165Splc
c.493-2A>G
1 paper
NM_032250.5
p.K164_D165Splc
c.493-5T>C
1 paper
NM_032250.5
p.D210N
c.628G>A
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