Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD1
Variant:p.K97E

ANKRD1

178 papers

RefSeq Summary

The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a ...

Pfam Domains

Ank_2aa 124–216UCSCAnkyrin repeats (3 copies)
Ank_2aa 214–282UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 1

HGNC Alias Symbols

C-193; ALRP; CARP; CVARP; MCARP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014391.3
p.K97E
c.289A>G
Surrounding Variants
1 paper
NM_014391.3
p.K98insFs
c.294dupA
1 paper
NM_014391.3
p.Y99H
c.295T>C
1 paper
NM_014391.3
p.Y99fs
c.295_296fs
1 paper
NM_014391.3
p.K94*
c.280A>T
1 paper
NM_014391.3
p.R100S
c.300G>T
1 paper
NM_014391.3
p.R100S
c.300G>C
1 paper
NM_014391.3
p.T102A
c.304A>G
1 paper
NM_014391.3
p.I91V
c.271A>G
10 papers
NM_014391.3
p.P105S
c.313C>T
9 papers
NM_014391.3
p.V107L
c.319G>T
7 papers
NM_014391.3
p.V107L
c.319G>C
1 paper
NM_014391.3
p.V107I
c.319G>A
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