Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD1
Variant:p.L125fs

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.L125fs
c.373_374fs
Surrounding Variants
1 paper
NM_014391.3
p.L125delFs
c.373_374delAG
1 paper
NM_014391.3
p.T123del1
c.367_369delCGT
16 papers
NM_014391.3
p.T123M
c.368C>T
1 paper
NM_014391.3
p.V121M
c.361G>A
1 paper
NM_014391.3
p.E130*
c.388G>T
3 papers
NM_014391.3
p.T116T
c.348G>A
15 papers
NM_014391.3
p.T116M
c.347C>T
1 paper
NM_014391.3
p.V136A
c.407T>C
2 papers
NM_014391.3
p.F139L
c.415T>C
1 paper
NM_014391.3
p.I115_T116Splc
c.346-15T>A
2 papers
NM_014391.3
p.F139L
c.417C>G
2 papers
NM_014391.3
p.F139L
c.417C>A
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