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.P47R

c.140C>G

Surrounding Variants

1 paper

NM_172002.5

p.G45D

c.134G>A

1 paper

NM_172002.5

p.R40C

c.118C>T

1 paper

NM_172002.5

p.F57insFs

c.170_171insA

1 paper

NM_172002.5

p.C61Y

c.182G>A

1 paper

NM_172002.5

p.A63S

c.187G>T

1 paper

NM_172002.5

p.P21H

c.62C>A

1 paper

NM_172002.5

p.P17S

c.49C>T

1 paper

NM_172002.5

p.C79Splc

c.236+4C>T

1 paper

NM_172002.5

p.R11Q

c.32G>A

1 paper

NM_172002.5

p.M1I

c.3G>A

1 paper

NM_172002.5

p.M1I

c.3G>C

1 paper

NM_172002.5

p.M1I

c.3G>T