Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.V2085delFs

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.V2085delFs
c.6254_6255delTA
Surrounding Variants
1 paper
NM_178857.6
p.D2086ins1
c.6256_6257insGGG
1 paper
NM_178857.6
p.D2086E
c.6258T>G
1 paper
NM_178857.6
p.D2086E
c.6258T>A
1 paper
NM_178857.6
p.V2085I
c.6253G>A
1 paper
NM_178857.6
p.D2084G
c.6251A>G
1 paper
NM_178857.6
p.Q2088H
c.6264G>T
1 paper
NM_178857.6
p.Q2088H
c.6264G>C
1 paper
NM_178857.6
p.H2079Q
c.6237C>G
1 paper
NM_178857.6
p.H2079Q
c.6237C>A
1 paper
NM_178857.6
p.H2079Y
c.6235C>T
1 paper
NM_178857.6
p.E2097D
c.6291A>T
2 papers
NM_178857.6
p.E2097E
c.6291A>G
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