Varaico: Literature-Extracted Genetic Variants

TERT

3,344 papers

RefSeq Summary

Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, enc...

Pfam Domains

Telomerase_RBDaa 460–592UCSCTelomerase ribonucleoprotein complex - RNA binding domain

TERT_Caa 968–1097UCSCTelomerase reverse transcriptase, C-terminal extension

Gene Aliases

HGNC Name

telomerase reverse transcriptase

HGNC Alias Symbols

TRT; TP2; TCS1; hEST2; EST2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_198253.3

p.A276_R277delFs

c.828_831del4

Surrounding Variants

2 papers

NM_198253.3

p.P278L

c.833C>T

2 papers

NM_198253.3

p.P278R

c.833C>G

1 paper

NM_198253.3

p.P278delins

c.832_833delinsTT

4 papers

NM_198253.3

p.P278S

c.832C>T

1 paper

NM_198253.3

p.P278P

c.834C>G

2 papers

NM_198253.3

p.P278T

c.832C>A

50 papers

NM_198253.3

p.A279T

c.835G>A

1 paper

NM_198253.3

p.R277S

c.831A>T

1 paper

NM_198253.3

p.R277S

c.831A>C

1 paper

NM_198253.3

p.R277T

c.830G>C

2 papers

NM_198253.3

p.R277K

c.830G>A

1 paper

NM_198253.3

p.A279V

c.836C>T