Varaico: Literature-Extracted Genetic Variants

HSCB

48 papers

RefSeq Summary

This gene encodes a DnaJ-type co-chaperone and member of the heat shock cognate B (HscB) family of proteins. The encoded protein plays a role in the synthesis of iron-sulfur clusters, protein cofactor...

Pfam Domains

HscB_4_cysaa 39–65UCSCCo-chaperone HscB tetracysteine metal binding motif

HSCB_Caa 157–229UCSCHSCB C-terminal oligomerisation domain

Gene Aliases

HGNC Name

HscB mitochondrial iron-sulfur cluster cochaperone

HGNC Alias Symbols

HSC20; DNAJC20; Jac1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_172002.5

p.S136T

c.407G>C

Surrounding Variants

1 paper

NM_172002.5

p.L139_Y140delFs

c.416_420del5

1 paper

NM_172002.5

p.L139fs

c.415_416fs

1 paper

NM_172002.5

p.Y128C

c.383A>G

1 paper

NM_172002.5

p.D126G

c.377A>G

1 paper

NM_172002.5

p.T87fs

c.259_260fs

1 paper

NM_172002.5

p.T87insFs

c.259dupA

1 paper

NM_172002.5

p.D86H

c.256G>C

1 paper

NM_172002.5

p.R84T

c.251G>C

1 paper

NM_172002.5

p.R152K

c.455G>A

1 paper

NM_172002.5

p.I163M

c.489A>G

2 papers

NM_172002.5

p.I168L

c.502A>C

1 paper

NM_172002.5

p.A173T

c.517G>A