Varaico: Literature-Extracted Genetic Variants

UBTF

134 papers

RefSeq Summary

This gene encodes a member of the HMG-box DNA-binding protein family. The encoded protein plays a critical role in ribosomal RNA transcription as a key component of the pre-initiation complex, mediati...

Pfam Domains

HMG_boxaa 112–180UCSCHMG (high mobility group) box

HMG_boxaa 196–264UCSCHMG (high mobility group) box

HMG_box_2aa 296–361UCSCHMG-box domain

HMG_boxaa 407–471UCSCHMG (high mobility group) box

HMG_box_5aa 479–563UCSCHMG (high mobility group) box 5

Gene Aliases

HGNC Name

upstream binding transcription factor

HGNC Alias Symbols

UBF; NOR-90; UBF1; UBF2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 99 variants

37 papers

NM_014233.4

p.E210K

c.628G>A

5 papers

NM_014233.4

p.Q203R

c.608A>G

3 papers

NM_014233.4

p.D10A

c.29A>C

2 papers

NM_014233.4

p.R443*

c.1327C>T

2 papers

NM_014233.4

p.E476*

c.1426G>T

2 papers

NM_014233.4

p.S484A

c.1450T>G

1 paper

NM_014233.4

p.M1I

c.3G>T

1 paper

NM_014233.4

p.M1I

c.3G>C

1 paper

NM_014233.4

p.M1I

c.3G>A

1 paper

NM_014233.4

p.G3G

c.9A>G

1 paper

NM_014233.4

p.E4D

c.12A>C

1 paper

NM_014233.4

p.P8insFs

c.23dupC