Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.S1404R

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.S1404R
c.4212C>G
Surrounding Variants
1 paper
NM_178857.6
p.S1404R
c.4212C>A
2 papers
NM_178857.6
p.V1405I
c.4213G>A
1 paper
NM_178857.6
p.V1405fs
c.4213_4214fs
1 paper
NM_178857.6
p.S1404_V1405delFs
c.4212_4213delCG
1 paper
NM_178857.6
p.S1404R
c.4210A>C
1 paper
NM_178857.6
p.P1416L
c.4247C>T
1 paper
NM_178857.6
p.G1387E
c.4160G>A
12 papers
NM_178857.6
p.D1425H
c.4273G>C
2 papers
NM_178857.6
p.G1384A
c.4151G>C
1 paper
NM_178857.6
p.D1425E
c.4275C>G
1 paper
NM_178857.6
p.D1425E
c.4275C>A
1 paper
NM_178857.6
p.E1379A
c.4136A>C
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