Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.S2193L

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
2 papers
NM_178857.6
p.S2193L
c.6578C>T
Surrounding Variants
1 paper
NM_178857.6
p.G2195V
c.6584G>T
1 paper
NM_178857.6
p.P2191S
c.6571C>T
2 papers
NM_178857.6
p.I2196V
c.6586A>G
1 paper
NM_178857.6
p.V2180_G2195ins5
c.6538_6585dup48
1 paper
NM_178857.6
p.P2199L
c.6596C>T
1 paper
NM_178857.6
p.A2185A
c.6555A>T
1 paper
NM_178857.6
p.A2201V
c.6602C>T
2 papers
NM_178857.6
p.A2201A
c.6603A>T
1 paper
NM_178857.6
p.G2203R
c.6607G>C
1 paper
NM_178857.6
p.G2203R
c.6607G>A
1 paper
NM_178857.6
p.P2183P
c.6549A>T
1 paper
NM_178857.6
p.P2183P
c.6549A>G
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