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

6 papers

NM_198253.3

p.R466W

c.1396C>T

Surrounding Variants

1 paper

NM_198253.3

p.R466P

c.1397G>C

1 paper

NM_198253.3

p.R466Q

c.1397G>A

3 papers

NM_198253.3

p.V465L

c.1393G>T

1 paper

NM_198253.3

p.A467insFs

c.1399_1400insAG

3 papers

NM_198253.3

p.V465L

c.1393G>C

2 papers

NM_198253.3

p.A467V

c.1400C>T

1 paper

NM_198253.3

p.F464F

c.1392C>T

2 papers

NM_198253.3

p.G463D

c.1388G>A

1 paper

NM_198253.3

p.C468C

c.1404C>T

1 paper

NM_198253.3

p.G463S

c.1387G>A

3 papers

NM_198253.3

p.Y462delFs

c.1386delG

1 paper

NM_198253.3

p.Y462Y

c.1386C>T