Varaico: Literature-Extracted Genetic Variants

Gene:RUFY2
Variant:p.Q313_D314Splc

RUFY2

27 papers

Pfam Domains

RUNaa 45–168UCSCRUN domain
FYVEaa 536–599UCSCFYVE zinc finger

Gene Aliases

HGNC Name

RUN and FYVE domain containing 2

HGNC Alias Symbols

RABIP4R; FLJ10063; KIAA1537; ZFYVE13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001330103.2
p.Q313_D314Splc
c.940-326C>T
Surrounding Variants
1 paper
NM_001330103.2
p.D345delFs
c.1034delT
1 paper
NM_001330103.2
p.Q313_D314Splc
c.939+301C>T
1 paper
NM_001330103.2
p.E296G
c.887A>G
1 paper
NM_001330103.2
p.N379delFs
c.1136delT
1 paper
NM_001330103.2
p.N262delFs
c.784delT
1 paper
NM_001330103.2
p.R259L
c.776G>T
1 paper
NM_001330103.2
p.R259*
c.775C>T
1 paper
NM_001330103.2
p.K440N
c.1320A>C
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."