Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.S2300F

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.S2300F
c.6899C>T
Surrounding Variants
1 paper
NM_178857.6
p.S2301C
c.6902C>G
2 papers
NM_178857.6
p.W2306R
c.6916T>C
2 papers
NM_178857.6
p.W2306R
c.6916T>A
1 paper
NM_178857.6
p.S2294C
c.6881C>G
1 paper
NM_178857.6
p.C2309S
c.6925T>A
1 paper
NM_178857.6
p.C2309S
c.6926G>C
1 paper
NM_178857.6
p.R2291K
c.6872G>A
2 papers
NM_178857.6
p.Q2311E
c.6931C>G
9 papers
NM_178857.6
p.Q2311P
c.6932A>C
3 papers
NM_178857.6
p.G2285R
c.6853G>C
4 papers
NM_178857.6
p.G2285R
c.6853G>A
1 paper
NM_178857.6
p.P2281S
c.6841C>T
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