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

1–12 of 39 variants

15 papers

NM_001008388.5

p.E37Q

c.109G>C

10 papers

NM_001008388.5

p.V35Splc

c.103+1G>A

9 papers

NM_001008388.5

p.H114Y

c.340C>T

7 papers

NM_001008388.5

p.N72S

c.215A>G

3 papers

NM_001008388.5

p.L91delFs

c.272_273delTG

2 papers

NM_001008388.5

p.L91fs

c.271_272fs

2 papers

NM_001008388.5

p.S104P

c.310T>C

2 papers

NM_001008388.5

p.G112G

c.336T>C

1 paper

NM_001008388.5

p.V2V

c.6G>T

1 paper

NM_001008388.5

p.V12delFs

c.35delT

1 paper

NM_001008388.5

p.V23L

c.67G>C

1 paper

NM_001008388.5

p.I27L

c.79A>C