Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.E1988K

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.E1988K
c.5962G>A
Surrounding Variants
1 paper
NM_178857.6
p.E1988delFs
c.5962delC
1 paper
NM_178857.6
p.E1988fs
c.5962_5963fs
15 papers
NM_178857.6
p.Q1987*
c.5959C>T
2 papers
NM_178857.6
p.T1986A
c.5956A>G
1 paper
NM_178857.6
p.G1991E
c.5972G>A
1 paper
NM_178857.6
p.V1984G
c.5951T>G
1 paper
NM_178857.6
p.E1992Q
c.5974G>C
1 paper
NM_178857.6
p.E1992D
c.5976G>T
1 paper
NM_178857.6
p.E1992D
c.5976G>C
1 paper
NM_178857.6
p.E1983*
c.5947G>T
1 paper
NM_178857.6
p.V1982A
c.5945T>C
1 paper
NM_178857.6
p.Q1994H
c.5982G>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."