Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.R136H

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
3 papers
NM_178857.6
p.R136H
c.407G>A
Surrounding Variants
1 paper
NM_178857.6
p.R136L
c.407G>T
1 paper
NM_178857.6
p.R136C
c.406C>T
1 paper
NM_178857.6
p.A138D
c.413C>A
1 paper
NM_178857.6
p.E133K
c.397G>A
5 papers
NM_178857.6
p.P139insFs
c.416dupC
1 paper
NM_178857.6
p.P139fs
c.415_416fs
2 papers
NM_178857.6
p.G140fs
c.418_419fs
1 paper
NM_178857.6
p.G140G
c.420C>T
1 paper
NM_178857.6
p.G140fs
c.418_419fs
1 paper
NM_178857.6
p.R130W
c.388C>T
1 paper
NM_178857.6
p.R145W
c.433C>T
2 papers
NM_178857.6
p.R145Q
c.434G>A
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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."