Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1

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
1–12 of 952 variants
71 papers
NM_178857.6
p.R45W
c.133C>T
22 papers
NM_178857.6
p.E1324G
c.3971A>G
21 papers
NM_178857.6
p.S1199C
c.3596C>G
16 papers
NM_178857.6
p.R658*
c.1972C>T
15 papers
NM_178857.6
p.Q1987*
c.5959C>T
13 papers
NM_178857.6
p.W960R
c.2878T>C
13 papers
NM_178857.6
p.W960R
c.2878T>A
12 papers
NM_178857.6
p.G1200V
c.3599G>T
12 papers
NM_178857.6
p.G1200D
c.3599G>A
12 papers
NM_178857.6
p.G1335V
c.4004G>T
12 papers
NM_178857.6
p.D1425H
c.4273G>C
11 papers
NM_178857.6
p.E1340G
c.4019A>G
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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."