Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.S1798N

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.S1798N
c.5393G>A
Surrounding Variants
1 paper
NM_178857.6
p.R1800S
c.5400G>T
1 paper
NM_178857.6
p.R1800S
c.5400G>C
1 paper
NM_178857.6
p.G1801R
c.5401G>C
1 paper
NM_178857.6
p.G1801R
c.5401G>A
1 paper
NM_178857.6
p.G1807G
c.5421C>G
2 papers
NM_178857.6
p.G1816D
c.5447G>A
3 papers
NM_178857.6
p.A1818T
c.5452G>A
1 paper
NM_178857.6
p.A1819V
c.5456C>T
4 papers
NM_178857.6
p.Q1824*
c.5470C>T
1 paper
NM_178857.6
p.Q1770*
c.5308C>T
1 paper
NM_178857.6
p.E1833K
c.5497G>A
1 paper
NM_178857.6
p.E1836K
c.5506G>A
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