Varaico: Literature-Extracted Genetic Variants

Gene:CDIN1
Variant:p.A89T

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.A89T
c.265G>A
Surrounding Variants
1 paper
NM_001321759.2
p.K78fs
c.232_233fs
4 papers
NM_001321759.2
p.L73V
c.217C>G
1 paper
NM_001321759.2
p.R71Splc
c.213-2446C>T
4 papers
NM_001321759.2
p.Y94S
c.281A>C
7 papers
NM_001321759.2
p.Y94C
c.281A>G
1 paper
NM_001321759.2
p.H111Q
c.333C>A
1 paper
NM_001321759.2
p.H111Q
c.333C>G
1 paper
NM_001321759.2
p.P116Splc
c.346+1G>A
2 papers
NM_001321759.2
p.S62L
c.185C>T
1 paper
NM_001321759.2
p.Q49K
c.145C>A
1 paper
NM_001321759.2
p.S45F
c.134C>T
1 paper
NM_001321759.2
p.A38P
c.112G>C
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