Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD1
Variant:p.A276V

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
18 papers
NM_014391.3
p.A276V
c.827C>T
Surrounding Variants
1 paper
NM_014391.3
p.L278V
c.832C>G
1 paper
NM_014391.3
p.M273T
c.818T>C
10 papers
NM_014391.3
p.I280V
c.838A>G
1 paper
NM_014391.3
p.I280N
c.839T>A
1 paper
NM_014391.3
p.I272L
c.814A>C
1 paper
NM_014391.3
p.R269*
c.805C>T
1 paper
NM_014391.3
p.C283_A284Splc
c.849+6T>G
1 paper
NM_014391.3
p.R264C
c.790C>T
1 paper
NM_014391.3
p.R264G
c.790C>G
1 paper
NM_014391.3
p.T254S
c.761C>G
1 paper
NM_014391.3
p.T254S
c.760A>T
1 paper
NM_014391.3
p.D253E
c.759T>G
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