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.Y308C

c.923A>G

Surrounding Variants

1 paper

NM_014233.4

p.Y308*

c.924C>G

1 paper

NM_014233.4

p.Y308*

c.924C>A

1 paper

NM_014233.4

p.D341D

c.1023C>T

1 paper

NM_014233.4

p.E286K

c.856G>A

1 paper

NM_014233.4

p.G276A

c.827G>C

1 paper

NM_014233.4

p.K352Q

c.1054A>C

1 paper

NM_014233.4

p.K352R

c.1055A>G

1 paper

NM_014233.4

p.K352_D353delFs

c.1055_1058del4

1 paper

NM_014233.4

p.E357insFs

c.1069_1070insG

1 paper

NM_014233.4

p.L358L

c.1072C>T

1 paper

NM_014233.4

p.E363Q

c.1087G>C

1 paper

NM_014233.4

p.S364fs

c.1090_1091fs