Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD1

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
1–12 of 168 variants
18 papers
NM_014391.3
p.A276V
c.827C>T
16 papers
NM_014391.3
p.R66Q
c.197G>A
16 papers
NM_014391.3
p.T123M
c.368C>T
15 papers
NM_014391.3
p.T116M
c.347C>T
12 papers
NM_014391.3
p.P52A
c.154C>G
10 papers
NM_014391.3
p.P105S
c.313C>T
10 papers
NM_014391.3
p.I280V
c.838A>G
9 papers
NM_014391.3
p.V107L
c.319G>T
7 papers
NM_014391.3
p.K74insFs
c.222dupA
7 papers
NM_014391.3
p.V107L
c.319G>C
4 papers
NM_014391.3
p.R78S
c.234A>T
4 papers
NM_014391.3
p.R78S
c.234A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."