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.D43H

c.127G>C

Surrounding Variants

1 paper

NM_198253.3

p.D43N

c.127G>A

1 paper

NM_198253.3

p.Q40_G42del0

c.118_126del9

2 papers

NM_198253.3

p.G42G

c.126G>T

1 paper

NM_198253.3

p.G42G

c.126G>A

2 papers

NM_198253.3

p.D43A

c.128A>C

1 paper

NM_198253.3

p.G42del1

c.124_126delCCC

1 paper

NM_198253.3

p.G42Fs

c.125delinsTTFs

1 paper

NM_198253.3

p.G42E

c.125G>A

1 paper

NM_198253.3

p.G42delins

c.124_125delinsTT

6 papers

NM_198253.3

p.G42W

c.124G>T

1 paper

NM_198253.3

p.G42Fs

c.124delinsTTTFs

1 paper

NM_198253.3

p.G42Fs

c.124delinsTCTFs