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.P59P

c.177C>T

Surrounding Variants

2 papers

NM_198253.3

p.P59L

c.176C>T

1 paper

NM_198253.3

p.P59R

c.176C>G

1 paper

NM_198253.3

p.W60L

c.179G>T

1 paper

NM_198253.3

p.W60*

c.179G>A

2 papers

NM_198253.3

p.P59S

c.175C>T

1 paper

NM_198253.3

p.P59A

c.175C>G

1 paper

NM_198253.3

p.W60*

c.180G>A

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.D61Y

c.181G>T

1 paper

NM_198253.3

p.D61N

c.181G>A

1 paper

NM_198253.3

p.L50_W60del11

c.148_179del33