Varaico: Literature-Extracted Genetic Variants

HSPH1

58 papers

RefSeq Summary

This gene encodes a member of the heat shock protein 70 family of proteins. The encoded protein functions as a nucleotide exchange factor for the molecular chaperone heat shock cognate 71 kDa protein ...

Pfam Domains

HSP70aa 3–708UCSCHsp70 protein

HSP70aa 32–147UCSCHsp70 protein

HYOU1_Caa 730–802UCSCHYOU1-like, C-terminal domain

Gene Aliases

HGNC Name

heat shock protein family H (Hsp110) member 1

HGNC Alias Symbols

HSP105B; KIAA0201; HSP105A; NY-CO-25

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006644.4

p.R705Q

c.2114G>A

Surrounding Variants

1 paper

NM_006644.4

p.L668F

c.2002C>T

1 paper

NM_006644.4

p.M748I

c.2244G>T

1 paper

NM_006644.4

p.M748I

c.2244G>C

1 paper

NM_006644.4

p.M748I

c.2244G>A

1 paper

NM_001286504.1

p.R783L

c.2348G>T

2 papers

NM_006644.4

p.R781H

c.2342G>A

1 paper

NM_006644.4

p.F656C

c.1967T>G

1 paper

NM_006644.4

p.P803L

c.2408C>T

1 paper

NM_006644.4

p.I807M

c.2421T>G

1 paper

NM_006644.4

p.S809*

c.2426C>G

1 paper

NM_006644.4

p.S809*

c.2426C>A

2 papers

NM_006644.4

p.E628Q

c.1882G>C