Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD20A1
Variant:p.L259fs

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.L259fs
c.775_776fs
Surrounding Variants
1 paper
NM_032250.5
p.L259_K260delFs
c.775_778del4
3 papers
NM_032250.5
p.K256N
c.768G>C
3 papers
NM_032250.5
p.K256N
c.768G>T
2 papers
NM_032250.5
p.E262D
c.786G>C
2 papers
NM_032250.5
p.E262D
c.786G>T
1 paper
NM_032250.5
p.S264P
c.790T>C
2 papers
NM_032250.5
p.S264*
c.791C>A
2 papers
NM_032250.5
p.S264*
c.791C>G
1 paper
NM_032250.5
p.D265Splc
c.793+15T>A
1 paper
NM_032250.5
p.Q228K
c.682C>A
1 paper
NM_032250.5
p.D210N
c.628G>A
2 papers
NM_032250.5
p.R200Q
c.599G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."