Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.C1442*

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.C1442*
c.4326C>A
Surrounding Variants
1 paper
NM_178857.6
p.E1440_P1441del2
c.4318_4322del6
1 paper
NM_178857.6
p.A1444T
c.4330G>A
1 paper
NM_178857.6
p.G1446D
c.4337G>A
1 paper
NM_178857.6
p.E1448K
c.4342G>A
1 paper
NM_178857.6
p.A1432insFs
c.4294_4295ins16
1 paper
NM_178857.6
p.A1432fs
c.4294_4295fs
1 paper
NM_178857.6
p.P1454H
c.4361C>A
1 paper
NM_178857.6
p.P1454fs
c.4360_4361fs
1 paper
NM_178857.6
p.S1455C
c.4363A>T
1 paper
NM_178857.6
p.P1454delFs
c.4362delA
1 paper
NM_178857.6
p.D1425E
c.4275C>G
1 paper
NM_178857.6
p.D1425E
c.4275C>A
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