Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.Q2010H

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.Q2010H
c.6030A>C
Surrounding Variants
1 paper
NM_178857.6
p.Q2010H
c.6030A>T
1 paper
NM_178857.6
p.E2011Q
c.6031G>C
1 paper
NM_178857.6
p.E2006D
c.6018A>T
1 paper
NM_178857.6
p.E2006D
c.6018A>C
1 paper
NM_178857.6
p.A2005A
c.6015T>A
1 paper
NM_178857.6
p.E2015D
c.6045G>T
1 paper
NM_178857.6
p.E2015D
c.6045G>C
1 paper
NM_178857.6
p.A2016S
c.6046G>T
1 paper
NM_178857.6
p.P2003delins
c.6008_6009delinsAG
1 paper
NM_178857.6
p.P2003delFs
c.6007_6008delGG
2 papers
NM_178857.6
p.P2003Q
c.6008C>A
1 paper
NM_178857.6
p.P2018L
c.6053C>T
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."