Varaico: Literature-Extracted Genetic Variants

Gene:CISD3
Variant:p.R16P

CISD3

15 papers

RefSeq Summary

CISD3 is a member of the CDGSH domain-containing family, which may play a role in regulating electron transport and oxidative phosphorylation (Wiley et al., 2007 [PubMed 17376863]).[supplied by OMIM, ...

Pfam Domains

zf-CDGSHaa 38–76UCSCIron-binding zinc finger CDGSH type
zf-CDGSHaa 81–114UCSCIron-binding zinc finger CDGSH type

Gene Aliases

HGNC Name

CDGSH iron sulfur domain 3

HGNC Alias Symbols

Miner2; MiNT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001136498.2
p.R16P
c.47G>C
Surrounding Variants
1 paper
NM_001136498.2
p.L28fs
c.82_83fs
1 paper
NM_001136498.2
p.L28insFs
c.82_83insT
1 paper
NM_001136498.2
p.P46S
c.136C>T
1 paper
NM_001136498.2
p.I47F
c.139A>T
1 paper
NM_001136498.2
p.V52_G54delFs
c.156_160del5
1 paper
NM_001136498.2
p.C62_G63delFs
c.186_187delTG
1 paper
NM_001136498.2
p.C62fs
c.184_185fs
1 paper
NM_001136498.2
p.C62fs
c.184_185fs
3 papers
NM_001136498.2
p.R79C
c.235C>T
1 paper
NM_001136498.2
p.L82_S83insT
c.244_248ins3
1 paper
NM_001136498.2
p.K88E
c.262A>G
1 paper
NM_001136498.2
p.L97P
c.290T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."