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.R91S

c.271C>A

Surrounding Variants

1 paper

NM_198253.3

p.R91L

c.272G>T

1 paper

NM_198253.3

p.E90D

c.270G>T

3 papers

NM_198253.3

p.E90D

c.270G>C

1 paper

NM_198253.3

p.R91H

c.272G>A

1 paper

NM_198253.3

p.R91delFs

c.272delC

1 paper

NM_198253.3

p.C89insFs

c.267dupC

2 papers

NM_198253.3

p.E90Q

c.268G>C

1 paper

NM_198253.3

p.G92A

c.275G>C

2 papers

NM_198253.3

p.C89C

c.267C>T

2 papers

NM_198253.3

p.C89W

c.267C>G

1 paper

NM_198253.3

p.C89F

c.266G>T

1 paper

NM_198253.3

p.G92delFs

c.276delG