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.R248delFs

c.743delC

Surrounding Variants

2 papers

NM_198253.3

p.T249A

c.745A>G

1 paper

NM_198253.3

p.P246_R248delFs

c.737_744del8

1 paper

NM_198253.3

p.T249M

c.746C>T

1 paper

NM_198253.3

p.T249R

c.746C>G

1 paper

NM_198253.3

p.T249T

c.747G>T

1 paper

NM_198253.3

p.R248L

c.743G>T

1 paper

NM_198253.3

p.T249T

c.747G>C

1 paper

NM_198253.3

p.R248P

c.743G>C

16 papers

NM_198253.3

p.R248Q

c.743G>A

1 paper

NM_198253.3

p.T249T

c.747G>A

1 paper

NM_198253.3

p.R248fs

c.742_743fs

14 papers

NM_198253.3

p.R248W

c.742C>T