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.Y18F

c.53A>T

Surrounding Variants

1 paper

NM_198253.3

p.Y18C

c.53A>G

1 paper

NM_198253.3

p.Y18H

c.52T>C

1 paper

NM_198253.3

p.Y18Y

c.54C>T

2 papers

NM_198253.3

p.Y18*

c.54C>A

1 paper

NM_198253.3

p.R19C

c.55C>T

1 paper

NM_198253.3

p.H17H

c.51C>T

1 paper

NM_198253.3

p.H17Q

c.51C>G

1 paper

NM_198253.3

p.H17Q

c.51C>A

1 paper

NM_198253.3

p.Y18delFs

c.53_54delGT

1 paper

NM_198253.3

p.S16_H17delFs

c.47_50del4

1 paper

NM_198253.3

p.R19L

c.56G>T

2 papers

NM_198253.3

p.R19R

c.57C>T