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

1–12 of 342 variants

7 papers

NM_007110.5

p.S1195P

c.3583T>C

6 papers

NM_007110.5

p.S116P

c.346T>C

5 papers

NM_007110.5

p.R1055C

c.3163C>T

4 papers

NM_007110.5

p.K1955R

c.5864A>G

4 papers

NM_007110.5

p.V2214I

c.6640G>A

3 papers

NM_007110.5

p.G165E

c.494G>A

3 papers

NM_007110.5

p.N307K

c.921C>G

3 papers

NM_007110.5

p.N307K

c.921C>A

3 papers

NM_007110.5

p.R500W

c.1498C>T

3 papers

NM_007110.5

p.G1091R

c.3271G>C

3 papers

NM_007110.5

p.G1091R

c.3271G>A

3 papers

NM_007110.5

p.R1155Q

c.3464G>A