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.L518P

c.1553T>C

Surrounding Variants

1 paper

NM_006819.3

p.E520*

c.1558G>T

1 paper

NM_006819.3

p.K513R

c.1538A>G

1 paper

NM_006819.3

p.L508R

c.1523T>G

1 paper

NM_006819.3

p.I507del1

c.1519_1520delATC

1 paper

NM_006819.3

p.D492N

c.1474G>A

1 paper

NM_006819.3

p.V485M

c.1453G>A

1 paper

NM_006819.3

p.A474T

c.1420G>A

1 paper

NM_006819.3

p.A465G

c.1394C>G

1 paper

NM_006819.3

p.D456Y

c.1366G>T

2 papers

NM_006819.3

p.K446R

c.1337A>G

1 paper

NM_006819.3

p.D443Y

c.1327G>T

1 paper

NM_006819.3

p.P525S

c.1573C>T