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.Y412C

c.1235A>G

Surrounding Variants

1 paper

NM_007110.5

p.K422_F423Splc

c.1266+1G>T

1 paper

NM_007110.5

p.K422_F423Splc

c.1266+1G>A

1 paper

NM_007110.5

p.R386R

c.1158G>C

1 paper

NM_007110.5

p.R386W

c.1156C>T

1 paper

NM_007110.5

p.R383W

c.1147C>T

1 paper

NM_007110.5

p.Y380C

c.1139A>G

1 paper

NM_007110.5

p.Y380H

c.1138T>C

1 paper

NM_007110.5

p.L377P

c.1130T>C

1 paper

NM_007110.5

p.Y375*

c.1125C>G

1 paper

NM_007110.5

p.Y375*

c.1125C>A

1 paper

NM_007110.5

p.E374K

c.1120G>A

1 paper

NM_007110.5

p.D367E

c.1101C>A