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.N146K

c.438C>A

Surrounding Variants

1 paper

NM_007110.5

p.N146K

c.438C>G

2 papers

NM_007110.5

p.S147C

c.439A>T

2 papers

NM_007110.5

p.N148S

c.443A>G

1 paper

NM_007110.5

p.R143C

c.427C>T

1 paper

NM_007110.5

p.T137M

c.410C>T

1 paper

NM_007110.5

p.L131L

c.391C>T

1 paper

NM_007110.5

p.S163C

c.488C>G

1 paper

NM_007110.5

p.K164E

c.490A>G

1 paper

NM_007110.5

p.Q129R

c.386A>G

1 paper

NM_007110.5

p.Q129K

c.385C>A

1 paper

NM_007110.5

p.K164R

c.491A>G

1 paper

NM_007110.5

p.K164fs

c.490_491fs