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.M174L

c.520A>T

Surrounding Variants

1 paper

NM_006644.4

p.M174L

c.520A>C

1 paper

NM_006644.4

p.L165P

c.494T>C

1 paper

NM_006644.4

p.Q161P

c.482A>C

1 paper

NM_006644.4

p.F148S

c.443T>C

1 paper

NM_006644.4

p.A178T

c.532G>A

1 paper

NM_006644.4

p.D192G

c.575A>G

1 paper

NM_006644.4

p.E193K

c.577G>A

1 paper

NM_006644.4

p.R196G

c.586C>G

1 paper

NM_006644.4

p.I197M

c.591A>G

1 paper

NM_006644.4

p.V201I

c.601G>A

1 paper

NM_006644.4

p.H205Y

c.613C>T

1 paper

NM_006644.4

p.F227C

c.680T>G