Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36

ANKRD36

206 papers

Pfam Domains

Ank_2aa 36–128UCSCAnkyrin repeats (3 copies)
Ank_2aa 132–227UCSCAnkyrin repeats (3 copies)
CCDC144Caa 1495–1853UCSCCCDC144C protein coiled-coil region

Gene Aliases

HGNC Name

ankyrin repeat domain 36

HGNC Alias Symbol

UNQ2430

Papers
RefSeq ID
Protein change
DNA change
1–12 of 386 variants
11 papers
NM_001354587.1
p.V1157M
c.3469G>A
9 papers
NM_001354587.1
p.V396insFs
c.1187_1188dupTT
8 papers
NM_001354587.1
p.S655*
c.1964C>A
8 papers
NM_001354587.1
p.S655*
c.1964C>G
8 papers
NM_001354587.1
p.S655_K656insFs
c.1965_1966insG
7 papers
NM_001354587.1
p.V388G
c.1163T>G
7 papers
NM_001354587.1
p.A395delFs
c.1183_1184delGC
7 papers
NM_001354587.1
p.A395S
c.1183G>T
7 papers
NM_001354587.1
p.D559E
c.1677C>A
7 papers
NM_001354587.1
p.D559E
c.1677C>G
6 papers
NM_001354587.1
p.P273A
c.817C>G
6 papers
NM_001354587.1
p.A395G
c.1184C>G
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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."