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

2 papers

NM_006644.4

p.E474K

c.1420G>A

Surrounding Variants

1 paper

NM_006644.4

p.D472G

c.1415A>G

1 paper

NM_006644.4

p.V467A

c.1400T>C

1 paper

NM_006644.4

p.N485D

c.1453A>G

1 paper

NM_006644.4

p.M497V

c.1489A>G

1 paper

NM_006644.4

p.E504K

c.1510G>A

1 paper

NM_006644.4

p.P502_E505delins

c.1505_1515delinsTC

1 paper

NM_006644.4

p.M508R

c.1523T>G

1 paper

NM_006644.4

p.E511K

c.1531G>A

1 paper

NM_006644.4

p.D513G

c.1538A>G

1 paper

NM_006644.4

p.S554Y

c.1661C>A

1 paper

NM_006644.4

p.P558A

c.1672C>G

1 paper

NM_006644.4

p.E559K

c.1675G>A