Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.Q1011*

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.Q1011*
c.3031C>T
Surrounding Variants
1 paper
NM_178857.6
p.A1009_G1010del2
c.3025_3029del6
2 papers
NM_178857.6
p.A1009_G1010delFs
c.3026_3029del4
1 paper
NM_178857.6
p.A1009fs
c.3025_3026fs
2 papers
NM_178857.6
p.A1009V
c.3026C>T
1 paper
NM_178857.6
p.A1009fs
c.3025_3026fs
2 papers
NM_178857.6
p.Q1008*
c.3022C>T
1 paper
NM_178857.6
p.Q1008E
c.3022C>G
1 paper
NM_178857.6
p.E1005V
c.3014A>T
1 paper
NM_178857.6
p.P1018H
c.3053C>A
1 paper
NM_178857.6
p.P994T
c.2980C>A
1 paper
NM_178857.6
p.D993N
c.2977G>A
1 paper
NM_178857.6
p.E991Q
c.2971G>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."