Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.P109fs

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
2 papers
NM_178857.6
p.P109fs
c.325_326fs
Surrounding Variants
2 papers
NM_178857.6
p.P109insFs
c.325_326insT
9 papers
NM_178857.6
p.K108_P109insFs
c.324_325insT
6 papers
NM_178857.6
p.P109insFs
c.326_327insT
1 paper
NM_178857.6
p.P109insFs
c.326_327insA
1 paper
NM_178857.6
p.P109_P110insFs
c.327_328insT
5 papers
NM_178857.6
p.P109fs
c.325_326fs
4 papers
NM_178857.6
p.P110L
c.329C>T
2 papers
NM_178857.6
p.P110R
c.329C>G
7 papers
NM_178857.6
p.K111fs
c.331_332fs
1 paper
NM_178857.6
p.K111Q
c.331A>C
4 papers
NM_178857.6
p.P110insFs
c.330dupC
1 paper
NM_178857.6
p.S105_D106delFs
c.313_317del5
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