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.L47V

c.139T>G

Surrounding Variants

1 paper

NM_007110.5

p.K48E

c.142A>G

2 papers

NM_007110.5

p.L47delFs

c.141delC

1 paper

NM_007110.5

p.A53insFs

c.158_159ins4

1 paper

NM_007110.5

p.T40S

c.119C>G

1 paper

NM_007110.5

p.A53_T54insFs

c.159_160ins4

1 paper

NM_007110.5

p.T40insFs

c.118_119insGT

2 papers

NM_007110.5

p.H37insFs

c.109_110ins5

1 paper

NM_007110.5

p.K33_H35Fs

c.98_104delinsTCCFs

1 paper

NM_007110.5

p.K33E

c.97A>G

1 paper

NM_007110.5

p.K63E

c.187A>G

1 paper

NM_007110.5

p.P30L

c.89C>T

1 paper

NM_007110.5

p.L28*

c.83T>A