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

Selected Variant

1 paper

NM_014233.4

p.M597T

c.1790T>C

Surrounding Variants

1 paper

NM_014233.4

p.R596H

c.1787G>A

1 paper

NM_014233.4

p.S584A

c.1750T>G

1 paper

NM_014233.4

p.L618L

c.1854G>A

1 paper

NM_014233.4

p.Y575D

c.1723T>G

1 paper

NM_014233.4

p.Y626*

c.1878C>G

1 paper

NM_014233.4

p.Y626*

c.1878C>A

1 paper

NM_014233.4

p.M572Splc

c.1715+1G>T

1 paper

NM_014233.4

p.K533N

c.1599G>T

1 paper

NM_014233.4

p.K533N

c.1599G>C

1 paper

NM_001076683.2

p.V459_I460Fs

c.1375_1380delinsTFs

2 papers

NM_014233.4

p.S484A

c.1450T>G

1 paper

NM_014233.4

p.R478R

c.1434G>A