Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD40

ANKRD40

30 papers

Pfam Domains

Ank_4aa 14–64UCSCAnkyrin repeats (many copies)
ANKRD40_UBLaa 265–338UCSCANKRD40 ubiquitin-like domain

Gene Aliases

HGNC Name

ankyrin repeat domain 40

HGNC Alias Symbol

MGC15396

Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
5 papers
NM_052855.4
p.D99E
c.297T>A
4 papers
NM_052855.4
p.D99E
c.297T>G
2 papers
NM_052855.4
p.K28E
c.82A>G
2 papers
NM_052855.4
p.E98D
c.294A>T
2 papers
NM_052855.4
p.E98D
c.294A>C
2 papers
NM_052855.4
p.E98_D99del1
c.294_296delTCT
2 papers
NM_052855.4
p.D105_D106ins0
c.315_317dupTGA
2 papers
NM_052855.4
p.M229V
c.685A>G
1 paper
NM_052855.4
p.R13K
c.38G>A
1 paper
NM_052855.4
p.E16Q
c.46G>C
1 paper
NM_052855.4
p.G21R
c.61G>C
1 paper
NM_052855.4
p.G21R
c.61G>A
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