Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.P945delFs

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.P945delFs
c.2835delG
Surrounding Variants
1 paper
NM_178857.6
p.S946fs
c.2836_2837fs
7 papers
NM_178857.6
p.R950H
c.2849G>A
1 paper
NM_178857.6
p.S951L
c.2852C>T
1 paper
NM_178857.6
p.R950_S952del0
c.2850_2855del6
1 paper
NM_178857.6
p.E938D
c.2814G>T
1 paper
NM_178857.6
p.E938D
c.2814G>C
1 paper
NM_178857.6
p.G936R
c.2806G>C
1 paper
NM_178857.6
p.G936R
c.2806G>A
1 paper
NM_178857.6
p.Q935fs
c.2803_2804fs
1 paper
NM_178857.6
p.Q935delFs
c.2804delT
1 paper
NM_178857.6
p.Q935insFs
c.2803dupC
1 paper
NM_178857.6
p.V957F
c.2869G>T
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