Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.A1908V

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.A1908V
c.5723C>T
Surrounding Variants
1 paper
NM_178857.6
p.E1902V
c.5705A>T
1 paper
NM_178857.6
p.E1902K
c.5704G>A
1 paper
NM_178857.6
p.A1915A
c.5745C>A
1 paper
NM_178857.6
p.Q1916*
c.5746C>T
2 papers
NM_178857.6
p.V1899A
c.5696T>C
1 paper
NM_178857.6
p.T1919S
c.5755A>T
1 paper
NM_178857.6
p.E1923G
c.5768A>G
1 paper
NM_178857.6
p.T1892A
c.5674A>G
1 paper
NM_178857.6
p.A1876_E1891del0
c.5626_5673del48
1 paper
NM_178857.6
p.S1887_D1889delFs
c.5660_5666del7
1 paper
NM_178857.6
p.T1927I
c.5780C>T
4 papers
NM_178857.6
p.D1889V
c.5666A>T
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