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.Y386S

c.1157A>C

Surrounding Variants

1 paper

NM_198253.3

p.Y386*

c.1158C>G

1 paper

NM_198253.3

p.Y386fs

c.1156_1157fs

1 paper

NM_198253.3

p.Y386*

c.1158C>A

1 paper

NM_198253.3

p.R385R

c.1155C>T

1 paper

NM_198253.3

p.R385R

c.1155C>G

1 paper

NM_198253.3

p.W387*

c.1160G>A

1 paper

NM_198253.3

p.W387C

c.1161G>C

2 papers

NM_198253.3

p.W387*

c.1161G>A

3 papers

NM_198253.3

p.Q384R

c.1151A>G

1 paper

NM_198253.3

p.P383delFs

c.1147delG

1 paper

NM_198253.3

p.Q384E

c.1150C>G

1 paper

NM_198253.3

p.P383S

c.1147C>T