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

1–12 of 87 variants

2 papers

NM_006644.4

p.N61H

c.181A>C

2 papers

NM_006644.4

p.E474K

c.1420G>A

2 papers

NM_006644.4

p.E628Q

c.1882G>C

2 papers

NM_006644.4

p.R781H

c.2342G>A

1 paper

NM_006644.4

p.D7H

c.19G>C

1 paper

NM_006644.4

p.I15T

c.44T>C

1 paper

NM_006644.4

p.A27T

c.79G>A

1 paper

NM_006644.4

p.S31I

c.92G>T

1 paper

NM_006644.4

p.P36Splc

c.107+1G>T

1 paper

NM_006644.4

p.S40S

c.120A>T

1 paper

NM_006644.4

p.R46T

c.137G>C

1 paper

NM_006644.4

p.A60T

c.178G>A