Varaico: Literature-Extracted Genetic Variants

STIP1

188 papers

RefSeq Summary

STIP1 is an adaptor protein that coordinates the functions of HSP70 (see HSPA1A; MIM 140550) and HSP90 (see HSP90AA1; MIM 140571) in protein folding. It is thought to assist in the transfer of protein...

Pfam Domains

STI1-HOP_DPaa 130–184UCSCSTI1/HOP, DP domain

TPR_8aa 260–292UCSCTetratricopeptide repeat

TPR_1aa 300–332UCSCTetratricopeptide repeat

TPR_1aa 360–393UCSCTetratricopeptide repeat

TPR_1aa 394–427UCSCTetratricopeptide repeat

STI1-HOP_DPaa 482–536UCSCSTI1/HOP, DP domain

Gene Aliases

HGNC Name

stress induced phosphoprotein 1

HGNC Alias Symbols

HOP; STI1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006819.3

p.G61S

c.181G>A

Surrounding Variants

1 paper

NM_006819.3

p.D60N

c.178G>A

1 paper

NM_006819.3

p.T64N

c.191C>A

1 paper

NM_006819.3

p.Y54F

c.161A>T

1 paper

NM_006819.3

p.K68R

c.203A>G

1 paper

NM_006819.3

p.K68_G72delFs

c.204_214del11

1 paper

NM_006819.3

p.D53A

c.158A>C

1 paper

NM_006819.3

p.K73E

c.217A>G

1 paper

NM_006819.3

p.A46D

c.137C>A

1 paper

NM_006819.3

p.R44G

c.130C>G

1 paper

NM_006819.3

p.D34E

c.102T>A

1 paper

NM_006819.3

p.D34V

c.101A>T

1 paper

NM_006819.3

p.L33R

c.98T>G