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.I1824M

c.5472C>G

Surrounding Variants

1 paper

NM_007110.5

p.V1814A

c.5441T>C

1 paper

NM_007110.5

p.K1836_D1837Splc

c.5508+18T>A

1 paper

NM_007110.5

p.R1846C

c.5536C>T

1 paper

NM_007110.5

p.V1856insFs

c.5566dupG

1 paper

NM_007110.5

p.V1856fs

c.5566_5567fs

1 paper

NM_007110.5

p.R1861_A1870delFs

c.5582_5610del29

1 paper

NM_007110.5

p.A1875insFs

c.5623dupG

1 paper

NM_007110.5

p.A1875fs

c.5623_5624fs

1 paper

NM_007110.5

p.R1876W

c.5626C>T

1 paper

NM_007110.5

p.G1780R

c.5338G>C

1 paper

NM_007110.5

p.G1780R

c.5338G>A

1 paper

NM_007110.5

p.H1894Q

c.5682T>G