Varaico: Literature-Extracted Genetic Variants

TEP1

302 papers

RefSeq Summary

This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated pr...

Pfam Domains

TEP1_Naa 1–29UCSCTEP1 N-terminal domain

TEP1_Naa 31–59UCSCTEP1 N-terminal domain

TEP1_Naa 61–89UCSCTEP1 N-terminal domain

TEP1_Naa 91–119UCSCTEP1 N-terminal domain

TROVEaa 226–292UCSCTROVE domain

TROVEaa 226–676UCSCTROVE domain

Gene Aliases

HGNC Name

telomerase associated protein 1

HGNC Alias Symbols

TP1; TLP1; VAULT2; p240; TROVE1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_007110.5

p.N307K

c.921C>G

Surrounding Variants

3 papers

NM_007110.5

p.N307K

c.921C>A

1 paper

NM_007110.5

p.A305V

c.914C>T

1 paper

NM_007110.5

p.V301I

c.901G>A

1 paper

NM_007110.5

p.P316L

c.947C>T

1 paper

NM_007110.5

p.C318S

c.952T>A

1 paper

NM_007110.5

p.C318S

c.953G>C

1 paper

NM_007110.5

p.R296R

c.888G>A

1 paper

NM_007110.5

p.A295_R296insFs

c.885_886insA

1 paper

NM_007110.5

p.H321insFs

c.962_963insA

1 paper

NM_007110.5

p.R323Q

c.968G>A

1 paper

NM_007110.5

p.R324*

c.970C>T

2 papers

NM_007110.5

p.R324insFs

c.971_972insAT