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

15 papers

NM_001008388.5

p.E37Q

c.109G>C

Surrounding Variants

1 paper

NM_001008388.5

p.E37K

c.109G>A

1 paper

NM_001008388.5

p.S36A

c.106T>G

1 paper

NM_001008388.5

p.R40W

c.118C>T

1 paper

NM_001008388.5

p.A55V

c.164C>T

1 paper

NM_001008388.5

p.P58L

c.173C>T

1 paper

NM_001008388.5

p.L60F

c.178C>T

1 paper

NM_001008388.5

p.K64R

c.191A>G

7 papers

NM_001008388.5

p.N72S

c.215A>G

1 paper

NM_001008388.5

p.L73I

c.217C>A

1 paper

NM_001008388.5

p.I88N

c.263T>A

1 paper

NM_001008388.5

p.E89*

c.265G>T

2 papers

NM_001008388.5

p.L91fs

c.271_272fs