Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD13D

ANKRD13D

38 papers

RefSeq Summary

The protein encoded by this gene is a member of the ankyrin repeat domain (ANKRD) 13 family, which currently consists of four proteins containing ubiquitin-interacting motifs. These proteins are integ...

Pfam Domains

Ank_2aa 10–102UCSCAnkyrin repeats (3 copies)
ANKRD13_Caa 155–469UCSCANKRD13 C-terminal

Gene Aliases

HGNC Name

ankyrin repeat domain 13D

HGNC Previous Name

ankyrin repeat domain 13 family, member D

Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
2 papers
NM_207354.3
p.R20G
c.58C>G
1 paper
NM_207354.3
p.R39P
c.116G>C
1 paper
NM_207354.3
p.L44R
c.131T>G
1 paper
NM_207354.3
p.A47V
c.140C>T
1 paper
NM_207354.3
p.G51E
c.152G>A
1 paper
NM_207354.3
p.E69K
c.205G>A
1 paper
NM_207354.3
p.G84A
c.251G>C
1 paper
NM_207354.3
p.P109L
c.326C>T
1 paper
NM_207354.3
p.R116C
c.346C>T
1 paper
NM_207354.3
p.R116L
c.347G>T
1 paper
NM_207354.3
p.F121F
c.363C>T
1 paper
NM_207354.3
p.R146H
c.437G>A
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