Varaico: Literature-Extracted Genetic Variants

Gene:U2AF1

U2AF1

939 papers

RefSeq Summary

This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA br...

Pfam Domains

zf-CCCHaa 13–39UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)
zf-CCCHaa 13–39UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)
zf-CCCHaa 13–39UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)
zf-CCCHaa 13–39UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)
RRM_1aa 82–141UCSCRNA recognition motif
RRM_1aa 82–141UCSCRNA recognition motif

Gene Aliases

HGNC Name

U2 small nuclear RNA auxiliary factor 1

HGNC Previous Symbol

U2AFBP

Papers
RefSeq ID
Protein change
DNA change
1–12 of 212 variants
525 papers
NM_006758.3
p.S34F
c.101C>T
232 papers
NM_006758.3
p.Q157P
c.470A>C
181 papers
NM_006758.3
p.Q157R
c.470A>G
153 papers
NM_006758.3
p.S34Y
c.101C>A
91 papers
NM_006758.3
p.R156H
c.467G>A
51 papers
NM_006758.3
p.R35L
c.104G>T
19 papers
NM_006758.3
p.D14G
c.41A>G
12 papers
NM_006758.3
p.A26V
c.77C>T
11 papers
NM_006758.3
p.R35Q
c.104G>A
11 papers
NM_006758.3
p.S231L
c.692C>T
9 papers
NM_006758.3
p.I24T
c.71T>C
7 papers
NM_006758.3
p.E143K
c.427G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."