Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD16
Variant:p.A310Splc

ANKRD16

44 papers

Pfam Domains

Ank_2aa 10–101UCSCAnkyrin repeats (3 copies)
Ank_2aa 75–167UCSCAnkyrin repeats (3 copies)
Ank_2aa 175–270UCSCAnkyrin repeats (3 copies)
Ank_2aa 243–337UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 16

HGNC Alias Symbol

DKFZP434N1511

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019046.3
p.A310Splc
c.929-1G>T
Surrounding Variants
1 paper
NM_019046.3
p.H312R
c.935A>G
1 paper
NM_019046.3
p.Q318R
c.953A>G
1 paper
NM_019046.3
p.E335A
c.1004A>C
2 papers
NM_019046.3
p.T338M
c.1013C>T
5 papers
NM_019046.3
p.Q353R
c.1058A>G
1 paper
NM_019046.3
p.S358S
c.1074C>T
1 paper
NM_019046.3
p.T289K
c.866C>A
1 paper
NM_019046.3
p.K283_E284Splc
c.850-1G>T
1 paper
NM_019046.3
p.K283_E284Splc
c.849+1G>A
4 papers
NM_019046.3
p.Y280Y
c.840T>C
1 paper
NM_019046.3
p.D267H
c.799G>C
1 paper
NM_019046.3
p.D265N
c.793G>A
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