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.L105R

c.314T>G

Surrounding Variants

1 paper

NM_014233.4

p.P99S

c.295C>T

1 paper

NM_014233.4

p.V79E

c.236T>A

1 paper

NM_014233.4

p.D110_F111ins9

c.330_331ins27

1 paper

NM_014233.4

p.P112R

c.335C>G

1 paper

NM_014233.4

p.K114E

c.340A>G

1 paper

NM_014233.4

p.T117T

c.351C>G

1 paper

NM_014233.4

p.P118A

c.352C>G

1 paper

NM_014233.4

p.F120I

c.358T>A

1 paper

NM_014233.4

p.R121H

c.362G>A

1 paper

NM_014233.4

p.Y130H

c.388T>C

1 paper

NM_014233.4

p.L133_H134insFs

c.399_400insC

1 paper

NM_014233.4

p.E152Q

c.454G>C