Varaico: Literature-Extracted Genetic Variants

Gene:RGPD4
Variant:p.L518F

RGPD4

94 papers

Pfam Domains

TPR_8aa 61–93UCSCTetratricopeptide repeat
Ran_BP1aa 1049–1170UCSCRanBP1 domain
Ran_BP1aa 1346–1467UCSCRanBP1 domain
Rab_bindaa 1641–1706UCSCRab binding domain
GRIPaa 1707–1750UCSCGRIP domain

Gene Aliases

HGNC Name

RANBP2 like and GRIP domain containing 4

HGNC Alias Symbols

RGP4; DKFZp686P0288

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_182588.3
p.L518F
c.1552C>T
Surrounding Variants
4 papers
NM_182588.3
p.R528G
c.1582A>G
1 paper
NM_182588.3
p.E502G
c.1505A>G
1 paper
NM_182588.3
p.A535V
c.1604C>T
1 paper
NM_182588.3
p.P546S
c.1636C>T
1 paper
NM_182588.3
p.G547E
c.1640G>A
1 paper
NM_182588.3
p.R455Q
c.1364G>A
1 paper
NM_182588.3
p.T439S
c.1316C>G
1 paper
NM_182588.3
p.T439S
c.1315A>T
1 paper
NM_182588.3
p.M586_G587Splc
c.1759-1G>A
1 paper
NM_182588.3
p.Q640_A641Splc
c.1921-2A>G
2 papers
NM_182588.3
p.M669V
c.2005A>G
1 paper
NM_182588.3
p.S701P
c.2101T>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."