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

1 paper

NM_007110.5

p.C360delFs

c.1078delA

Surrounding Variants

1 paper

NM_007110.5

p.A359T

c.1075G>A

2 papers

NM_007110.5

p.R362C

c.1084C>T

1 paper

NM_007110.5

p.R362H

c.1085G>A

1 paper

NM_007110.5

p.P356S

c.1066C>T

1 paper

NM_007110.5

p.M365V

c.1093A>G

1 paper

NM_007110.5

p.M365T

c.1094T>C

1 paper

NM_007110.5

p.K353T

c.1058A>C

1 paper

NM_007110.5

p.D367E

c.1101C>A

1 paper

NM_007110.5

p.E374K

c.1120G>A

1 paper

NM_007110.5

p.Y375*

c.1125C>G

1 paper

NM_007110.5

p.Y375*

c.1125C>A

1 paper

NM_007110.5

p.L377P

c.1130T>C