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.E110*

c.328G>T

Surrounding Variants

1 paper

NM_006819.3

p.E110Q

c.328G>C

1 paper

NM_006819.3

p.Q107R

c.320A>G

1 paper

NM_006819.3

p.N104Y

c.310A>T

1 paper

NM_006819.3

p.E116K

c.346G>A

2 papers

NM_006819.3

p.H101L

c.302A>T

1 paper

NM_006819.3

p.A120T

c.358G>A

1 paper

NM_006819.3

p.T94T

c.282C>A

1 paper

NM_001282652.2

p.R140*

c.418C>T

1 paper

NM_006819.3

p.A91D

c.272C>A

1 paper

NM_006819.3

p.A91T

c.271G>A

1 paper

NM_006819.3

p.A91S

c.271G>T

1 paper

NM_006819.3

p.N86T

c.257A>C