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

1 paper

NM_004088.4

p.Y131Y

c.393T>C

Surrounding Variants

1 paper

NM_004088.4

p.P139S

c.415C>T

1 paper

NM_004088.4

p.P140Q

c.419C>A

1 paper

NM_004088.4

p.P143T

c.427C>A

1 paper

NM_004088.4

p.Q148R

c.443A>G

1 paper

NM_004088.4

p.Q148Q

c.444A>G

1 paper

NM_004088.4

p.K149*

c.445A>T

1 paper

NM_004088.4

p.T169M

c.506C>T

4 papers

NM_004088.4

p.R112G

c.334A>G

1 paper

NM_004088.4

p.D83Y

c.247G>T

1 paper

NM_004088.4

p.D83fs

c.247_248fs

1 paper

NM_004088.4

p.S82S

c.246G>A

1 paper

NM_004088.4

p.S82_D83ins1

c.246_247insCAA