Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.D98N

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.D98N
c.292G>A
Surrounding Variants
2 papers
NM_178857.6
p.E97Q
c.289G>C
1 paper
NM_178857.6
p.G100V
c.299G>T
1 paper
NM_178857.6
p.Q95H
c.285G>T
1 paper
NM_178857.6
p.Q95H
c.285G>C
1 paper
NM_178857.6
p.L103insFs
c.308dupT
1 paper
NM_178857.6
p.S105_D106delFs
c.313_317del5
1 paper
NM_178857.6
p.H88R
c.263A>G
9 papers
NM_178857.6
p.K108_P109insFs
c.324_325insT
2 papers
NM_178857.6
p.P109insFs
c.325_326insT
2 papers
NM_178857.6
p.P109fs
c.325_326fs
6 papers
NM_178857.6
p.P109insFs
c.326_327insT
1 paper
NM_178857.6
p.P109insFs
c.326_327insA
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