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

2 papers

NM_001319035.2

p.D1161G

c.3482A>G

NM_007110.5

p.D1269G

c.3806A>G

Surrounding Variants

1 paper

NM_007110.5

p.D1266N

c.3796G>A

1 paper

NM_007110.5

p.W1282*

c.3845G>A

1 paper

NM_007110.5

p.W1282*

c.3846G>A

1 paper

NM_007110.5

p.E1253G

c.3758A>G

1 paper

NM_007110.5

p.K1286N

c.3858G>T

1 paper

NM_007110.5

p.K1286N

c.3858G>C

1 paper

NM_007110.5

p.P1288S

c.3862C>T

1 paper

NM_007110.5

p.Y1236*

c.3708C>G

1 paper

NM_007110.5

p.Y1236*

c.3708C>A

1 paper

NM_007110.5

p.Y1236F

c.3707A>T

1 paper

NM_007110.5

p.V1294A

c.3881T>C

1 paper

NM_007110.5

p.D1300H

c.3898G>C