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.D1128E

c.3384C>A

Surrounding Variants

1 paper

NM_007110.5

p.D1127N

c.3379G>A

1 paper

NM_007110.5

p.V1130V

c.3390C>G

1 paper

NM_007110.5

p.G1115G

c.3345G>A

1 paper

NM_007110.5

p.R1155P

c.3464G>C

3 papers

NM_007110.5

p.R1155Q

c.3464G>A

1 paper

NM_007110.5

p.K1174fs

c.3520_3521fs

1 paper

NM_007110.5

p.L1178P

c.3533T>C

1 paper

NM_007110.5

p.Q1113H

c.3339G>T

1 paper

NM_007110.5

p.Q1113H

c.3339G>C

1 paper

NM_007110.5

p.L1110L

c.3330C>G

3 papers

NM_007110.5

p.G1091R

c.3271G>C

3 papers

NM_007110.5

p.G1091R

c.3271G>A