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.S2238R

c.6712A>C

Surrounding Variants

1 paper

NM_007110.5

p.S2238R

c.6714C>G

1 paper

NM_007110.5

p.S2238R

c.6714C>A

1 paper

NM_007110.5

p.R2242C

c.6724C>T

1 paper

NM_007110.5

p.T2233N

c.6698C>A

1 paper

NM_007110.5

p.G2260S

c.6778G>A

1 paper

NM_007110.5

p.W2223*

c.6669G>A

1 paper

NM_007110.5

p.W2223*

c.6668G>A

4 papers

NM_007110.5

p.V2214I

c.6640G>A

1 paper

NM_007110.5

p.A2202S

c.6604G>T

1 paper

NM_007110.5

p.S2280F

c.6839C>T

1 paper

NM_007110.5

p.A2282D

c.6845C>A

1 paper

NM_007110.5

p.V2283I

c.6847G>A