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.V58L

c.172G>T

Surrounding Variants

1 paper

NM_198253.3

p.V58L

c.172G>C

1 paper

NM_198253.3

p.V58M

c.172G>A

1 paper

NM_198253.3

p.C54_C57del4

c.160_170del12

1 paper

NM_198253.3

p.V58A

c.173T>C

1 paper

NM_198253.3

p.V58E

c.173T>A

1 paper

NM_198253.3

p.C57C

c.171C>T

1 paper

NM_198253.3

p.V56_C57delFs

c.166_170del5

1 paper

NM_198253.3

p.C57R

c.169T>C

2 papers

NM_198253.3

p.P59S

c.175C>T

1 paper

NM_198253.3

p.P59A

c.175C>G

2 papers

NM_198253.3

p.V56V

c.168G>A

2 papers

NM_198253.3

p.P59L

c.176C>T