Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.E1324G

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
22 papers
NM_178857.6
p.E1324G
c.3971A>G
Surrounding Variants
1 paper
NM_178857.6
p.E1324ins16
c.3970_3971ins48
9 papers
NM_178857.6
p.E1324ins16
c.3970_3971ins48
2 papers
NM_178857.6
p.E1324ins16
c.3971_3972ins48
1 paper
NM_178857.6
p.E1324ins1
c.3970_3971insGGA
1 paper
NM_178857.6
p.E1324fs
c.3970_3971fs
1 paper
NM_178857.6
p.K1326ins1
c.3977_3978insGAA
1 paper
NM_178857.6
p.K1326_T1327ins2
c.3978_3979ins6
2 papers
NM_178857.6
p.K1326_T1327ins1
c.3978_3979insGAA
1 paper
NM_178857.6
p.T1327S
c.3979A>T
1 paper
NM_178857.6
p.T1327A
c.3979A>G
2 papers
NM_178857.6
p.T1327ins1
c.3979_3980insGAA
2 papers
NM_178857.6
p.T1327I
c.3980C>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."