Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.D2021fs

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.D2021fs
c.6061_6062fs
Surrounding Variants
4 papers
NM_178857.6
p.D2021delFs
c.6063delG
3 papers
NM_178857.6
p.D2021fs
c.6061_6062fs
1 paper
NM_178857.6
p.S2020L
c.6059C>T
1 paper
NM_178857.6
p.E2019D
c.6057G>T
1 paper
NM_178857.6
p.E2019D
c.6057G>C
1 paper
NM_178857.6
p.P2018L
c.6053C>T
1 paper
NM_178857.6
p.A2016S
c.6046G>T
1 paper
NM_178857.6
p.P2027Q
c.6080C>A
1 paper
NM_178857.6
p.E2015D
c.6045G>T
1 paper
NM_178857.6
p.E2015D
c.6045G>C
1 paper
NM_178857.6
p.S2029*
c.6086C>G
1 paper
NM_178857.6
p.S2029*
c.6086C>A
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