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.S334_S335del2

c.1000_1004del6

Surrounding Variants

1 paper

NM_198253.3

p.G336R

c.1006G>C

1 paper

NM_198253.3

p.S335del1

c.1003_1004delTGA

3 papers

NM_198253.3

p.S334del1

c.1000_1001delGGA

1 paper

NM_198253.3

p.G336G

c.1008C>T

1 paper

NM_198253.3

p.S335L

c.1004C>T

1 paper

NM_198253.3

p.S335Fs

c.1003delinsGAFs

1 paper

NM_198253.3

p.K338Q

c.1012A>C

1 paper

NM_198253.3

p.Y333Y

c.999C>T

1 paper

NM_198253.3

p.K338R

c.1013A>G

1 paper

NM_198253.3

p.Y333S

c.998A>C

1 paper

NM_198253.3

p.E339*

c.1015G>T

1 paper

NM_198253.3

p.Q340*

c.1018C>T