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

2 papers

NM_004088.4

p.D280H

c.838G>C

Surrounding Variants

1 paper

NM_004088.4

p.S279L

c.836C>T

1 paper

NM_004088.4

p.R287*

c.859C>T

1 paper

NM_004088.4

p.W266C

c.798G>C

1 paper

NM_004088.4

p.W266C

c.798G>T

1 paper

NM_004088.4

p.L251F

c.751C>T

1 paper

NM_004088.4

p.S248C

c.743C>G

1 paper

NM_004088.4

p.Y246_Q247insCAA

c.736_740ins9

1 paper

NM_004088.4

p.R245_Y246insTT

c.733_737ins6

1 paper

NM_004088.4

p.V300A

c.899T>C

1 paper

NM_004088.4

p.E307D

c.921A>C

1 paper

NM_004088.4

p.E307D

c.921A>T

1 paper

NM_004088.4

p.V311I

c.931G>A