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.P322P

c.966C>T

Surrounding Variants

2 papers

NM_198253.3

p.P322L

c.965C>T

4 papers

NM_198253.3

p.P323L

c.968C>T

1 paper

NM_198253.3

p.P323R

c.968C>G

3 papers

NM_198253.3

p.V324M

c.970G>A

1 paper

NM_198253.3

p.V324A

c.971T>C

1 paper

NM_198253.3

p.Y325D

c.973T>G

2 papers

NM_198253.3

p.P320L

c.959C>T

1 paper

NM_198253.3

p.P320S

c.958C>T

1 paper

NM_198253.3

p.Y325C

c.974A>G

1 paper

NM_198253.3

p.T319fs

c.955_956fs

2 papers

NM_198253.3

p.T319M

c.956C>T

1 paper

NM_198253.3

p.A326V

c.977C>T