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.H11R

c.32A>G

Surrounding Variants

1 paper

NM_007110.5

p.P12S

c.34C>T

1 paper

NM_007110.5

p.I14insFs

c.40_41insT

1 paper

NM_007110.5

p.V8M

c.22G>A

1 paper

NM_007110.5

p.E18A

c.53A>C

1 paper

NM_007110.5

p.E18E

c.54G>A

2 papers

NM_007110.5

p.E2insFs

c.4_5insT

1 paper

NM_007110.5

p.M1I

c.3G>T

1 paper

NM_007110.5

p.M1I

c.3G>C

1 paper

NM_007110.5

p.M1I

c.3G>A

1 paper

NM_007110.5

p.L22insFs

c.65_66insA

1 paper

NM_007110.5

p.L25F

c.73C>T

1 paper

NM_007110.5

p.P26S

c.76C>T