Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.E67K

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
2 papers
NM_178857.6
p.E67K
c.199G>A
Surrounding Variants
2 papers
NM_178857.6
p.E67*
c.199G>T
1 paper
NM_178857.6
p.D66H
c.196G>C
1 paper
NM_178857.6
p.L68F
c.202C>T
2 papers
NM_178857.6
p.M65T
c.194T>C
6 papers
NM_178857.6
p.L64F
c.190C>T
1 paper
NM_178857.6
p.Q70K
c.208C>A
2 papers
NM_178857.6
p.R71C
c.211C>T
1 paper
NM_178857.6
p.R71P
c.212G>C
1 paper
NM_178857.6
p.R71H
c.212G>A
1 paper
NM_178857.6
p.V72M
c.214G>A
1 paper
NM_178857.6
p.F61V
c.181T>G
8 papers
NM_178857.6
p.P73S
c.217C>T
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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."