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.P1066L

c.3197C>T

Surrounding Variants

1 paper

NM_198253.3

p.P1066P

c.3198C>T

1 paper

NM_198253.3

p.P1064_L1065del2

c.3190_3194del6

1 paper

NM_198253.3

p.S1067_E1068insA

c.3199_3203ins3

1 paper

NM_198253.3

p.S1067P

c.3199T>C

1 paper

NM_198253.3

p.L1065V

c.3193C>G

2 papers

NM_198253.3

p.E1068K

c.3202G>A

1 paper

NM_198253.3

p.A1069T

c.3205G>A

7 papers

NM_198253.3

p.G1063S

c.3187G>A

2 papers

NM_198253.3

p.V1070M

c.3208G>A

1 paper

NM_198253.3

p.V1070A

c.3209T>C

1 paper

NM_198253.3

p.A1062V

c.3185C>T

60 papers

NM_198253.3

p.A1062T

c.3184G>A