Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD40
Variant:p.D99E

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
Selected Variant
4 papers
NM_052855.4
p.D99E
c.297T>G
Surrounding Variants
5 papers
NM_052855.4
p.D99E
c.297T>A
2 papers
NM_052855.4
p.E98_D99del1
c.294_296delTCT
1 paper
NM_052855.4
p.D100E
c.300T>G
1 paper
NM_052855.4
p.D100E
c.300T>A
1 paper
NM_052855.4
p.E98_D99del2
c.292_296del6
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.D105_D106ins0
c.315_317dupTGA
1 paper
NM_052855.4
p.A141V
c.422C>T
1 paper
NM_052855.4
p.P156H
c.467C>A
1 paper
NM_052855.4
p.P156P
c.468T>G
1 paper
NM_052855.4
p.R177W
c.529C>T
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