Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.L75fs

PURA

172 papers

RefSeq Summary

This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replic...

Pfam Domains

PurAaa 58–278UCSCPurA ssDNA and RNA-binding protein

Gene Aliases

HGNC Name

purine rich element binding protein A

HGNC Alias Symbols

PURALPHA; PUR1; PUR-ALPHA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005859.5
p.L75fs
c.223_224fs
Surrounding Variants
1 paper
NM_005859.5
p.L75delFs
c.224delT
1 paper
NM_005859.5
p.Y74*
c.222C>A
1 paper
NM_005859.5
p.Y74*
c.222C>G
1 paper
NM_005859.5
p.L75_Q79del0
c.224_235del12
1 paper
NM_005859.5
p.L75Q
c.224T>A
2 papers
NM_005859.5
p.L75P
c.224T>C
1 paper
NM_005859.5
p.L75R
c.224T>G
1 paper
NM_005859.5
p.L75_K78delins
c.224_233delinsAGGACGTGAG
8 papers
NM_005859.5
p.Y74H
c.220T>C
1 paper
NM_005859.5
p.D76V
c.227A>T
7 papers
NM_005859.5
p.F73S
c.218T>C
2 papers
NM_005859.5
p.F73C
c.218T>G
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."