Varaico: Literature-Extracted Genetic Variants

CISD1

30 papers

RefSeq Summary

This gene encodes a protein with a CDGSH iron-sulfur domain and has been shown to bind a redox-active [2Fe-2S] cluster. The encoded protein has been localized to the outer membrane of mitochondria and...

Pfam Domains

MitoNEET_Naa 8–41UCSCIron-containing outer mitochondrial membrane protein N-terminus

zf-CDGSHaa 37–88UCSCIron-binding zinc finger CDGSH type

Gene Aliases

HGNC Name

CDGSH iron sulfur domain 1

HGNC Previous Symbols

C10orf70; ZCD1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 20 variants

2 papers

NM_018464.5

p.K55R

c.164A>G

1 paper

NM_018464.5

p.A25E

c.74C>A

1 paper

NM_018464.5

p.N46I

c.137A>T

1 paper

NM_018464.5

p.L47F

c.139C>T

1 paper

NM_018464.5

p.H48Q

c.144C>A

1 paper

NM_018464.5

p.H48Q

c.144C>G

1 paper

NM_018464.5

p.K55E

c.163A>G

1 paper

NM_018464.5

p.I56V

c.166A>G

1 paper

NM_018464.5

p.K68R

c.203A>G

1 paper

NM_018464.5

p.R73fs

c.217_218fs

1 paper

NM_018464.5

p.R73C

c.217C>T

1 paper

NM_018464.5

p.R73delFs

c.218_219delGT