Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.L359V

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.L359V
c.1075C>G
Surrounding Variants
1 paper
NM_178857.6
p.L359L
c.1075C>T
1 paper
NM_178857.6
p.P357L
c.1070C>T
1 paper
NM_178857.6
p.P357R
c.1070C>G
2 papers
NM_178857.6
p.D363H
c.1087G>C
1 paper
NM_178857.6
p.P364A
c.1090C>G
1 paper
NM_178857.6
p.S353T
c.1058G>C
1 paper
NM_178857.6
p.T350M
c.1049C>T
6 papers
NM_178857.6
p.W369*
c.1106G>A
6 papers
NM_178857.6
p.W369*
c.1107G>A
1 paper
NM_178857.6
p.A348V
c.1043C>T
1 paper
NM_178857.6
p.G371V
c.1112G>T
1 paper
NM_178857.6
p.A346G
c.1037C>G
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