Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.E2226Q

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.E2226Q
c.6676G>C
Surrounding Variants
1 paper
NM_178857.6
p.P2225L
c.6674C>T
1 paper
NM_178857.6
p.V2228I
c.6682G>A
1 paper
NM_178857.6
p.T2230I
c.6689C>T
1 paper
NM_178857.6
p.T2230N
c.6689C>A
1 paper
NM_178857.6
p.P2231L
c.6692C>T
1 paper
NM_178857.6
p.E2219G
c.6656A>G
1 paper
NM_178857.6
p.A2214T
c.6640G>A
1 paper
NM_178857.6
p.E2236_A2237del2
c.6706_6710del6
1 paper
NM_178857.6
p.E2240Q
c.6718G>C
1 paper
NM_178857.6
p.V2212I
c.6634G>A
1 paper
NM_178857.6
p.S2241S
c.6723A>G
1 paper
NM_178857.6
p.L2209*
c.6626T>G
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