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

4 papers

NM_007110.5

p.K1955R

c.5864A>G

Surrounding Variants

1 paper

NM_007110.5

p.A1934S

c.5800G>T

1 paper

NM_007110.5

p.V1933M

c.5797G>A

1 paper

NM_007110.5

p.R1919H

c.5756G>A

1 paper

NM_007110.5

p.K1907_V1908Splc

c.5722-4C>G

1 paper

NM_007110.5

p.L1975L

c.5923C>T

1 paper

NM_007110.5

p.L1983M

c.5947T>A

1 paper

NM_007110.5

p.D1989N

c.5965G>A

1 paper

NM_007110.5

p.L2002L

c.6006T>G

1 paper

NM_007110.5

p.A2026T

c.6076G>A

1 paper

NM_007110.5

p.H1894Q

c.5682T>G

1 paper

NM_007110.5

p.R1876W

c.5626C>T

1 paper

NM_007110.5

p.A1875fs

c.5623_5624fs