Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.L792P

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
5 papers
NM_178857.6
p.L792P
c.2375T>C
Surrounding Variants
1 paper
NM_178857.6
p.S791N
c.2372G>A
1 paper
NM_178857.6
p.A796A
c.2388C>A
1 paper
NM_178857.6
p.D798N
c.2392G>A
1 paper
NM_178857.6
p.S785L
c.2354C>T
1 paper
NM_178857.6
p.P773Q
c.2318C>A
1 paper
NM_178857.6
p.R812W
c.2434C>T
1 paper
NM_178857.6
p.C771W
c.2313C>G
1 paper
NM_178857.6
p.G767delFs
c.2299delC
1 paper
NM_178857.6
p.A817A
c.2451G>A
1 paper
NM_178857.6
p.V818L
c.2452G>T
1 paper
NM_178857.6
p.V818L
c.2452G>C
2 papers
NM_178857.6
p.R822*
c.2464C>T
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