Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD40
Variant:p.S218P

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
1 paper
NM_052855.4
p.S218P
c.652T>C
Surrounding Variants
1 paper
NM_052855.4
p.M229L
c.685A>T
2 papers
NM_052855.4
p.M229V
c.685A>G
1 paper
NM_052855.4
p.M229L
c.685A>C
1 paper
NM_052855.4
p.D189fs
c.565_566fs
1 paper
NM_052855.4
p.R177W
c.529C>T
1 paper
NM_052855.4
p.P156P
c.468T>G
1 paper
NM_052855.4
p.P156H
c.467C>A
1 paper
NM_052855.4
p.A141V
c.422C>T
2 papers
NM_052855.4
p.D105_D106ins0
c.315_317dupTGA
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
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