Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.R45W

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
71 papers
NM_178857.6
p.R45W
c.133C>T
Surrounding Variants
1 paper
NM_178857.6
p.R45Q
c.134G>A
2 papers
NM_178857.6
p.P44A
c.130C>G
1 paper
NM_178857.6
p.R41*
c.121C>T
1 paper
NM_178857.6
p.R50C
c.148C>T
1 paper
NM_178857.6
p.Q55Q
c.165G>A
2 papers
NM_178857.6
p.R56C
c.166C>T
1 paper
NM_178857.6
p.P32S
c.94C>T
1 paper
NM_178857.6
p.V30I
c.88G>A
1 paper
NM_178857.6
p.K29N
c.87G>C
1 paper
NM_178857.6
p.T28del1
c.82_83delGGT
1 paper
NM_178857.6
p.F61V
c.181T>G
1 paper
NM_178857.6
p.T28T
c.84C>T
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