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

5 papers

NM_014233.4

p.Q203R

c.608A>G

Surrounding Variants

1 paper

NM_014233.4

p.P202S

c.604C>T

1 paper

NM_014233.4

p.K198T

c.593A>C

37 papers

NM_014233.4

p.E210K

c.628G>A

1 paper

NM_014233.4

p.I195L

c.583A>C

1 paper

NM_014233.4

p.R218W

c.652C>T

1 paper

NM_014233.4

p.F179S

c.536T>C

1 paper

NM_014233.4

p.R174Q

c.521G>A

1 paper

NM_014233.4

p.R174*

c.520C>T

1 paper

NM_014233.4

p.E173K

c.517G>A

1 paper

NM_014233.4

p.E168delFs

c.504delC

1 paper

NM_014233.4

p.T223M

c.668C>T

1 paper

NM_014233.4

p.K232R

c.695A>G