Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.E1852D

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.E1852D
c.5556G>T
Surrounding Variants
1 paper
NM_178857.6
p.E1852D
c.5556G>C
1 paper
NM_178857.6
p.E1852Q
c.5554G>C
1 paper
NM_178857.6
p.V1851E
c.5552T>A
1 paper
NM_178857.6
p.G1850D
c.5549G>A
1 paper
NM_178857.6
p.E1847Q
c.5539G>C
3 papers
NM_178857.6
p.D1859E
c.5577T>G
2 papers
NM_178857.6
p.D1859E
c.5577T>A
1 paper
NM_178857.6
p.A1844T
c.5530G>A
1 paper
NM_178857.6
p.A1844fs
c.5530_5531fs
2 papers
NM_178857.6
p.Q1861P
c.5582A>C
1 paper
NM_178857.6
p.E1862Q
c.5584G>C
1 paper
NM_178857.6
p.E1862K
c.5584G>A
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