Varaico: Literature-Extracted Genetic Variants

Gene:CDIN1
Variant:p.W237R

CDIN1

41 papers

RefSeq Summary

This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in...

Pfam Domains

TPDaa 132–244UCSCProtein of unknown function TPD sequence-motif
TPDaa 132–269UCSCProtein of unknown function TPD sequence-motif

Gene Aliases

HGNC Name

CDAN1 interacting nuclease 1

HGNC Previous Symbol

C15orf41

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001321759.2
p.W237R
c.709T>C
Surrounding Variants
1 paper
NM_001321759.2
p.W237R
c.709T>A
3 papers
NM_001321759.2
p.Y236C
c.707A>G
3 papers
NM_001321759.2
p.H230P
c.689A>C
1 paper
NM_001321759.2
p.C223S
c.668G>C
1 paper
NM_001321759.2
p.C223S
c.667T>A
1 paper
NM_001321759.2
p.D196A
c.587A>C
1 paper
NM_001321759.2
p.R187C
c.559C>T
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