Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.K310delFs

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.K310delFs
c.929delT
Surrounding Variants
1 paper
NM_178857.6
p.K310fs
c.928_929fs
1 paper
NM_178857.6
p.R314H
c.941G>A
1 paper
NM_178857.6
p.M315L
c.943A>T
1 paper
NM_178857.6
p.N316fs
c.946_947fs
1 paper
NM_178857.6
p.V313_E317del5
c.937_950del15
1 paper
NM_178857.6
p.P302L
c.905C>T
1 paper
NM_178857.6
p.S300L
c.899C>T
1 paper
NM_178857.6
p.E324*
c.970G>T
9 papers
NM_178857.6
p.E324_M325insT
c.970_974ins3
1 paper
NM_178857.6
p.T296M
c.887C>T
1 paper
NM_178857.6
p.M325_K326insT
c.973_977ins3
1 paper
NM_178857.6
p.K326E
c.976A>G
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