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.N383S

c.1148A>G

Surrounding Variants

1 paper

NM_014233.4

p.Q370H

c.1110G>C

1 paper

NM_014233.4

p.G399_G400insC

c.1195_1199ins3

1 paper

NM_014233.4

p.G400fs

c.1198_1199fs

1 paper

NM_014233.4

p.G400delFs

c.1199delC

1 paper

NM_014233.4

p.S364fs

c.1090_1091fs

1 paper

NM_014233.4

p.S412fs

c.1234_1235fs

1 paper

NM_014233.4

p.E363Q

c.1087G>C

1 paper

NM_014233.4

p.L358L

c.1072C>T

1 paper

NM_014233.4

p.E357insFs

c.1069_1070insG

1 paper

NM_014233.4

p.K352_D353delFs

c.1055_1058del4

1 paper

NM_014233.4

p.K352R

c.1055A>G

1 paper

NM_014233.4

p.K352Q

c.1054A>C