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.N37D

c.109A>G

Surrounding Variants

1 paper

NM_014233.4

p.M34I

c.102G>C

1 paper

NM_014233.4

p.S44A

c.130T>G

1 paper

NM_014233.4

p.S51S

c.153A>C

1 paper

NM_014233.4

p.E56*

c.166G>T

1 paper

NM_014233.4

p.E78Q

c.232G>C

1 paper

NM_014233.4

p.V79E

c.236T>A

1 paper

NM_014233.4

p.P99S

c.295C>T

1 paper

NM_014233.4

p.L105R

c.314T>G

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