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_001076683.2

p.V459_I460Fs

c.1375_1380delinsTFs

Surrounding Variants

2 papers

NM_014233.4

p.S484A

c.1450T>G

1 paper

NM_014233.4

p.R478R

c.1434G>A

2 papers

NM_014233.4

p.E476*

c.1426G>T

1 paper

NM_014233.4

p.R459_E460Fs

c.1375_1380delinsTFs

1 paper

NM_014233.4

p.K455_R459del5

c.1363_1376del15

1 paper

NM_014233.4

p.R459fs

c.1375_1376fs

1 paper

NM_014233.4

p.K533N

c.1599G>T

1 paper

NM_014233.4

p.K533N

c.1599G>C

1 paper

NM_014233.4

p.N446fs

c.1336_1337fs

1 paper

NM_014233.4

p.R443L

c.1328G>T

2 papers

NM_014233.4

p.R443*

c.1327C>T

1 paper

NM_001076683.2

p.L400delFs

c.1199delA