Varaico: Literature-Extracted Genetic Variants

Gene:ANKLE1
Variant:p.W335C

ANKLE1

62 papers

Pfam Domains

Ank_2aa 11–106UCSCAnkyrin repeats (3 copies)
LEM-3_GIY-YIGaa 450–613UCSCLEM-3-like GIY-YIG domain

Gene Aliases

HGNC Name

ankyrin repeat and LEM domain containing 1

HGNC Previous Symbol

ANKRD41

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152363.6
p.W335C
c.1005G>T
Surrounding Variants
1 paper
NM_152363.6
p.W335C
c.1005G>C
1 paper
NM_152363.6
p.T337R
c.1010C>G
1 paper
NM_152363.6
p.C319Y
c.956G>A
1 paper
NM_152363.6
p.C317Y
c.950G>A
1 paper
NM_152363.6
p.P310_W321del12
c.928_962del36
1 paper
NM_152363.6
p.L280P
c.839T>C
1 paper
NM_152363.6
p.L278M
c.832C>A
1 paper
NM_152363.6
p.E394D
c.1182A>C
1 paper
NM_152363.6
p.E394D
c.1182A>T
1 paper
NM_152363.6
p.A277_F288del12
c.829_863del36
1 paper
NM_152363.6
p.N272fs
c.814_815fs
1 paper
NM_152363.6
p.E268Q
c.802G>C
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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."