Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.P278S

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.P278S
c.832C>T
Surrounding Variants
1 paper
NM_178857.6
p.R277delFs
c.831delC
1 paper
NM_178857.6
p.R277fs
c.829_830fs
1 paper
NM_178857.6
p.P275L
c.824C>T
1 paper
NM_178857.6
p.N282H
c.844A>C
1 paper
NM_178857.6
p.P272A
c.814C>G
1 paper
NM_178857.6
p.P284delFs
c.851delG
1 paper
NM_178857.6
p.T271M
c.812C>T
1 paper
NM_178857.6
p.P268Q
c.803C>A
1 paper
NM_178857.6
p.R265Q
c.794G>A
2 papers
NM_178857.6
p.S264L
c.791C>T
1 paper
NM_178857.6
p.H292P
c.875A>C
1 paper
NM_178857.6
p.Q294E
c.880C>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."