Varaico: Literature-Extracted Genetic Variants

DNTT

114 papers

RefSeq Summary

This gene is a member of the DNA polymerase type-X family and encodes a template-independent DNA polymerase that catalyzes the addition of deoxynucleotides to the 3'-hydroxyl terminus of oligonucleoti...

Pfam Domains

BRCTaa 27–111UCSCBRCA1 C Terminus (BRCT) domain

HHH_8aa 163–234UCSCHelix-hairpin-helix domain

DNA_pol_lambd_faa 250–300UCSCFingers domain of DNA polymerase lambda

NTP_transf_2aa 311–403UCSCNucleotidyltransferase domain

DNA_pol_B_thumbaa 445–508UCSCDNA polymerase beta thumb

Gene Aliases

HGNC Name

DNA nucleotidylexotransferase

HGNC Alias Symbols

TDT; TdT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_004088.4

p.D345E

c.1035T>G

Surrounding Variants

3 papers

NM_004088.4

p.D345E

c.1035T>A

1 paper

NM_004088.4

p.D345N

c.1033G>A

3 papers

NM_004088.4

p.D343E

c.1029T>A

3 papers

NM_004088.4

p.D343E

c.1029T>G

1 paper

NM_004088.4

p.I348L

c.1042A>C

2 papers

NM_004088.4

p.Q362*

c.1084C>T

1 paper

NM_004088.4

p.K370*

c.1108A>T

1 paper

NM_004088.4

p.R335L

c.1004G>T

1 paper

NM_004088.4

p.R335W

c.1003C>T

1 paper

NM_004088.4

p.T331delFs

c.991delA

1 paper

NM_004088.4

p.A326insFs

c.978dupT

1 paper

NM_004088.4

p.A326fs

c.976_977fs