Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD1
Variant:p.E26D

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.E26D
c.78G>T
Surrounding Variants
1 paper
NM_014391.3
p.E26D
c.78G>C
1 paper
NM_014391.3
p.D30N
c.88G>A
1 paper
NM_014391.3
p.G31R
c.91G>C
1 paper
NM_014391.3
p.G31R
c.91G>A
1 paper
NM_014391.3
p.E19K
c.55G>A
1 paper
NM_014391.3
p.G18R
c.52G>C
1 paper
NM_014391.3
p.N17D
c.49A>G
1 paper
NM_014391.3
p.A36A
c.108T>C
1 paper
NM_014391.3
p.G16R
c.46G>C
1 paper
NM_014391.3
p.K14N
c.42G>T
1 paper
NM_014391.3
p.K14N
c.42G>C
1 paper
NM_014391.3
p.L39*
c.116T>G
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