Varaico: Literature-Extracted Genetic Variants

CISD2

65 papers

RefSeq Summary

The protein encoded by this gene is a zinc finger protein that localizes to the endoplasmic reticulum. The encoded protein binds an iron/sulfur cluster and may be involved in calcium homeostasis. Defe...

Pfam Domains

MitoNEET_Naa 1–66UCSCIron-containing outer mitochondrial membrane protein N-terminus

zf-CDGSHaa 70–115UCSCIron-binding zinc finger CDGSH type

Gene Aliases

HGNC Name

CDGSH iron sulfur domain 2

HGNC Previous Symbols

ZCD2; WFS2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001008388.5

p.V23L

c.67G>C

Surrounding Variants

1 paper

NM_001008388.5

p.I27L

c.79A>C

1 paper

NM_001008388.5

p.I27V

c.79A>G

1 paper

NM_001008388.5

p.T28S

c.82A>T

1 paper

NM_001008388.5

p.T28S

c.83C>G

1 paper

NM_001008388.5

p.G29G

c.87G>A

1 paper

NM_001008388.5

p.R32K

c.95G>A

1 paper

NM_001008388.5

p.L33L

c.99C>A

1 paper

NM_001008388.5

p.V12delFs

c.35delT

1 paper

NM_001008388.5

p.T34K

c.101C>A

1 paper

NM_001008388.5

p.T34I

c.101C>T

10 papers

NM_001008388.5

p.V35Splc

c.103+1G>A

1 paper

NM_001008388.5

p.V2V

c.6G>T