Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.T2384N

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.T2384N
c.7151C>A
Surrounding Variants
1 paper
NM_178857.6
p.A2382V
c.7145C>T
1 paper
NM_178857.6
p.V2387L
c.7159G>T
1 paper
NM_178857.6
p.V2387L
c.7159G>C
1 paper
NM_178857.6
p.A2377delFs
c.7129delC
6 papers
NM_178857.6
p.Q2373*
c.7117C>T
1 paper
NM_178857.6
p.D2396E
c.7188T>G
1 paper
NM_178857.6
p.D2396E
c.7188T>A
1 paper
NM_178857.6
p.*2401Y
c.7203G>T
1 paper
NM_178857.6
p.*2401Y
c.7203G>C
1 paper
NM_178857.6
p.S2359*
c.7076C>G
1 paper
NM_178857.6
p.T2349T
c.7047T>C
2 papers
NM_178857.6
p.H2335R
c.7004A>G
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