Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD1
Variant:p.K74insFs

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
7 papers
NM_014391.3
p.K74insFs
c.222dupA
Surrounding Variants
3 papers
NM_014391.3
p.L75fs
c.223_224fs
3 papers
NM_014391.3
p.L75fs
c.223_224fs
1 paper
NM_014391.3
p.K72*
c.214A>T
4 papers
NM_014391.3
p.R78S
c.234A>T
4 papers
NM_014391.3
p.R78S
c.234A>C
1 paper
NM_014391.3
p.L70R
c.209T>G
1 paper
NM_014391.3
p.E82K
c.244G>A
1 paper
NM_014391.3
p.E69_L70Splc
c.208-15G>A
1 paper
NM_014391.3
p.I91V
c.271A>G
1 paper
NM_014391.3
p.K94*
c.280A>T
1 paper
NM_014391.3
p.K97E
c.289A>G
1 paper
NM_014391.3
p.K98insFs
c.294dupA
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