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

1–12 of 118 variants

2 papers

NM_006819.3

p.H101L

c.302A>T

2 papers

NM_006819.3

p.A302T

c.904G>A

2 papers

NM_006819.3

p.K434R

c.1301A>G

2 papers

NM_006819.3

p.K446R

c.1337A>G

1 paper

NM_001282652.2

p.C30*

c.90C>A

1 paper

NM_006819.3

p.M1V

c.1A>G

1 paper

NM_006819.3

p.V4I

c.10G>A

1 paper

NM_006819.3

p.N5I

c.14A>T

1 paper

NM_006819.3

p.E6*

c.16G>T

1 paper

NM_006819.3

p.A14T

c.40G>A

1 paper

NM_006819.3

p.L15P

c.44T>C

1 paper

NM_006819.3

p.Y27*

c.81C>A