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.P126A

c.376C>G

Surrounding Variants

1 paper

NM_007110.5

p.S125_P126insFs

c.375_376ins4

1 paper

NM_007110.5

p.Q129K

c.385C>A

1 paper

NM_007110.5

p.Q129R

c.386A>G

2 papers

NM_007110.5

p.V122M

c.364G>A

1 paper

NM_007110.5

p.L131L

c.391C>T

1 paper

NM_007110.5

p.L118_K119insGT

c.352_356ins6

6 papers

NM_007110.5

p.S116P

c.346T>C

1 paper

NM_007110.5

p.T137M

c.410C>T

1 paper

NM_007110.5

p.R110W

c.328C>T

1 paper

NM_007110.5

p.R143C

c.427C>T

1 paper

NM_007110.5

p.E108delFs

c.324delC

1 paper

NM_007110.5

p.S106S

c.318C>G