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.M469L

c.1405A>T

Surrounding Variants

1 paper

NM_004088.4

p.L471L

c.1413G>A

2 papers

NM_004088.4

p.R460Q

c.1379G>A

1 paper

NM_004088.4

p.E456Q

c.1366G>C

1 paper

NM_004088.4

p.L497L

c.1491G>T

1 paper

NM_004088.4

p.R507K

c.1520G>A

1 paper

NM_004088.4

p.T450S

c.1349C>G

1 paper

NM_004088.4

p.T450S

c.1348A>T

1 paper

NM_004088.4

p.A445T

c.1333G>A

1 paper

NM_004088.4

p.R431H

c.1292G>A

1 paper

NM_004088.4

p.R431C

c.1291C>T

1 paper

NM_004088.4

p.K408R

c.1223A>G

1 paper

NM_004088.4

p.L405L

c.1215G>A