Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.L1331R

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.L1331R
c.3992T>G
Surrounding Variants
1 paper
NM_178857.6
p.L1331V
c.3991C>G
1 paper
NM_178857.6
p.Q1332*
c.3994C>T
1 paper
NM_178857.6
p.G1330E
c.3989G>A
2 papers
NM_178857.6
p.E1333*
c.3997G>T
1 paper
NM_178857.6
p.E1329ins1
c.3985_3986insGAG
1 paper
NM_178857.6
p.E1329A
c.3986A>C
1 paper
NM_178857.6
p.E1328delins
c.3984delinsGGGGACTAAAGTAATA
2 papers
NM_178857.6
p.E1328V
c.3983A>T
1 paper
NM_178857.6
p.E1328A
c.3983A>C
3 papers
NM_178857.6
p.E1328ins5
c.3983_3984ins15
2 papers
NM_178857.6
p.E1328K
c.3982G>A
1 paper
NM_178857.6
p.E1334E
c.4002G>A
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