Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.R79H

RP1L1

515 papers

RefSeq Summary

This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a...

Pfam Domains

DCXaa 52–110UCSCDoublecortin
DCXaa 169–225UCSCDoublecortin

Gene Aliases

HGNC Name

RP1 like 1

HGNC Alias Symbol

DCDC4B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178857.6
p.R79H
c.236G>A
Surrounding Variants
2 papers
NM_178857.6
p.R79C
c.235C>T
1 paper
NM_178857.6
p.T83T
c.249A>G
3 papers
NM_178857.6
p.R85W
c.253C>T
1 paper
NM_178857.6
p.R85Q
c.254G>A
8 papers
NM_178857.6
p.P73S
c.217C>T
1 paper
NM_178857.6
p.G86S
c.256G>A
1 paper
NM_178857.6
p.G86D
c.257G>A
1 paper
NM_178857.6
p.V72M
c.214G>A
1 paper
NM_178857.6
p.R71P
c.212G>C
1 paper
NM_178857.6
p.R71H
c.212G>A
2 papers
NM_178857.6
p.R71C
c.211C>T
1 paper
NM_178857.6
p.H88R
c.263A>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."