Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.I154M

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.I154M
c.462A>G
Surrounding Variants
1 paper
NM_178857.6
p.R153S
c.459G>T
1 paper
NM_178857.6
p.R153S
c.459G>C
3 papers
NM_178857.6
p.R152Q
c.455G>A
1 paper
NM_178857.6
p.K158fs
c.472_473fs
2 papers
NM_178857.6
p.P151R
c.452C>G
1 paper
NM_178857.6
p.I157delFs
c.471delA
5 papers
NM_178857.6
p.T150I
c.449C>T
1 paper
NM_178857.6
p.N159D
c.475A>G
1 paper
NM_178857.6
p.M160I
c.480G>T
1 paper
NM_178857.6
p.D161N
c.481G>A
1 paper
NM_178857.6
p.P162delFs
c.485delG
1 paper
NM_178857.6
p.R163C
c.487C>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."