Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD1
Variant:p.Q65K

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.Q65K
c.193C>A
Surrounding Variants
2 papers
NM_014391.3
p.R66G
c.196C>G
16 papers
NM_014391.3
p.R66Q
c.197G>A
1 paper
NM_014391.3
p.E63K
c.187G>A
2 papers
NM_014391.3
p.Q59*
c.175C>T
2 papers
NM_014391.3
p.E57Q
c.169G>C
1 paper
NM_014391.3
p.G56R
c.166G>C
1 paper
NM_014391.3
p.G56R
c.166G>A
12 papers
NM_014391.3
p.P52A
c.154C>G
1 paper
NM_014391.3
p.P52T
c.154C>A
1 paper
NM_014391.3
p.A50A
c.150C>G
3 papers
NM_014391.3
p.A50P
c.148G>C
1 paper
NM_014391.3
p.E43K
c.127G>A
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