Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.D1976E

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.D1976E
c.5928T>G
Surrounding Variants
1 paper
NM_178857.6
p.D1976E
c.5928T>A
1 paper
NM_178857.6
p.V1977L
c.5929G>T
1 paper
NM_178857.6
p.V1977L
c.5929G>C
1 paper
NM_178857.6
p.D1976G
c.5927A>G
3 papers
NM_178857.6
p.L1980Q
c.5939T>A
1 paper
NM_178857.6
p.V1982A
c.5945T>C
1 paper
NM_178857.6
p.P1956_A1970delFs
c.5868_5910del43
1 paper
NM_178857.6
p.E1983*
c.5947G>T
1 paper
NM_178857.6
p.T1954_E1969del0
c.5860_5907del48
1 paper
NM_178857.6
p.E1969E
c.5907A>G
1 paper
NM_178857.6
p.V1984G
c.5951T>G
1 paper
NM_178857.6
p.E1968G
c.5903A>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."