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

1–12 of 93 variants

5 papers

NM_004088.4

p.V37I

c.109G>A

4 papers

NM_004088.4

p.R112G

c.334A>G

3 papers

NM_004088.4

p.D343E

c.1029T>A

3 papers

NM_004088.4

p.D343E

c.1029T>G

3 papers

NM_004088.4

p.D345E

c.1035T>A

3 papers

NM_004088.4

p.D345E

c.1035T>G

2 papers

NM_004088.4

p.I74I

c.222C>T

2 papers

NM_004088.4

p.D280H

c.838G>C

2 papers

NM_004088.4

p.Q362*

c.1084C>T

2 papers

NM_004088.4

p.R460Q

c.1379G>A

1 paper

NM_004088.4

p.R5Q

c.14G>A

1 paper

NM_004088.4

p.R12Q

c.35G>A