Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.R658*

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
16 papers
NM_178857.6
p.R658*
c.1972C>T
Surrounding Variants
1 paper
NM_178857.6
p.S652_G657delFs
c.1954_1969del16
1 paper
NM_178857.6
p.R658R
c.1974A>T
1 paper
NM_178857.6
p.H664P
c.1991A>C
2 papers
NM_178857.6
p.P665R
c.1994C>G
1 paper
NM_178857.6
p.S646T
c.1937G>C
1 paper
NM_178857.6
p.A645G
c.1934C>G
1 paper
NM_178857.6
p.A645S
c.1933G>T
1 paper
NM_178857.6
p.R671C
c.2011C>T
1 paper
NM_178857.6
p.T674I
c.2021C>T
1 paper
NM_178857.6
p.S676fs
c.2026_2027fs
9 papers
NM_178857.6
p.S676C
c.2026A>T
1 paper
NM_178857.6
p.S681F
c.2042C>T
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