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.R37W

c.109C>T

Surrounding Variants

1 paper

NM_198253.3

p.R37L

c.110G>T

1 paper

NM_198253.3

p.R37P

c.110G>C

1 paper

NM_198253.3

p.W36C

c.108G>C

4 papers

NM_198253.3

p.R37Q

c.110G>A

1 paper

NM_198253.3

p.W36L

c.107G>T

1 paper

NM_198253.3

p.R37fs

c.109_110fs

3 papers

NM_198253.3

p.W36S

c.107G>C

1 paper

NM_198253.3

p.R37R

c.111G>A

1 paper

NM_198253.3

p.W36delins

c.107_108delinsAG

1 paper

NM_198253.3

p.L31_W36del0

c.92_106del15

1 paper

NM_198253.3

p.W36R

c.106T>A

8 papers

NM_198253.3

p.L38L

c.112C>T