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

2 papers

NM_198253.3

p.V56V

c.168G>A

Surrounding Variants

1 paper

NM_198253.3

p.C57R

c.169T>C

1 paper

NM_198253.3

p.A49_L55delFs

c.147_165del19

1 paper

NM_198253.3

p.A49_V56del0

c.146_166del21

6 papers

NM_198253.3

p.V56L

c.166G>T

6 papers

NM_198253.3

p.V56L

c.166G>C

1 paper

NM_198253.3

p.V56M

c.166G>A

1 paper

NM_198253.3

p.L55L

c.165G>A

1 paper

NM_198253.3

p.C57C

c.171C>T

1 paper

NM_198253.3

p.V56_C57delFs

c.166_170del5

2 papers

NM_198253.3

p.L55P

c.164T>C

19 papers

NM_198253.3

p.L55Q

c.164T>A

1 paper

NM_198253.3

p.Q53_C54del2

c.157_161del6