Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.E1866D

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
4 papers
NM_178857.6
p.E1866D
c.5598G>T
Surrounding Variants
4 papers
NM_178857.6
p.E1866D
c.5598G>C
1 paper
NM_178857.6
p.D1859_E1866del0
c.5577_5597del21
2 papers
NM_178857.6
p.Q1868L
c.5603A>T
1 paper
NM_178857.6
p.Q1868Q
c.5604G>A
2 papers
NM_178857.6
p.E1862_Q1868del0
c.5584_5604del21
2 papers
NM_178857.6
p.A1863A
c.5589T>A
1 paper
NM_178857.6
p.E1862delFs
c.5584delC
1 paper
NM_178857.6
p.E1862Q
c.5584G>C
1 paper
NM_178857.6
p.E1862K
c.5584G>A
1 paper
NM_178857.6
p.E1862fs
c.5584_5585fs
2 papers
NM_178857.6
p.Q1861P
c.5582A>C
1 paper
NM_178857.6
p.D1873V
c.5618A>T
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