Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.D502A

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.D502A
c.1505A>C
Surrounding Variants
1 paper
NM_178857.6
p.G504S
c.1510G>A
1 paper
NM_178857.6
p.P503delFs
c.1509delG
1 paper
NM_178857.6
p.G504fs
c.1510_1511fs
1 paper
NM_178857.6
p.L505I
c.1513C>A
1 paper
NM_178857.6
p.G497G
c.1491G>C
1 paper
NM_178857.6
p.S498_C506del9
c.1492_1517del27
1 paper
NM_178857.6
p.G497E
c.1490G>A
1 paper
NM_178857.6
p.K494E
c.1480A>G
1 paper
NM_178857.6
p.R493Q
c.1478G>A
2 papers
NM_178857.6
p.R493W
c.1477C>T
2 papers
NM_178857.6
p.G514S
c.1540G>A
1 paper
NM_178857.6
p.I489T
c.1466T>C
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