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.L347L

c.1041C>T

Surrounding Variants

1 paper

NM_198253.3

p.L347P

c.1040T>C

1 paper

NM_198253.3

p.S348C

c.1042A>T

1 paper

NM_198253.3

p.S349C

c.1046C>G

1 paper

NM_198253.3

p.S349S

c.1047T>A

1 paper

NM_198253.3

p.L350P

c.1049T>C

1 paper

NM_198253.3

p.L350fs

c.1048_1049fs

1 paper

NM_198253.3

p.L350delFs

c.1048_1049delAG

1 paper

NM_198253.3

p.R351W

c.1051A>T

1 paper

NM_198253.3

p.S344T

c.1030T>A

1 paper

NM_198253.3

p.P343R

c.1028C>G

1 paper

NM_198253.3

p.P343S

c.1027C>T

1 paper

NM_198253.3

p.R342fs

c.1024_1025fs