Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.R703G

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.R703G
c.2107C>G
Surrounding Variants
1 paper
NM_178857.6
p.Q697_G699del3
c.2089_2096del9
1 paper
NM_178857.6
p.S708*
c.2123C>G
1 paper
NM_178857.6
p.S708*
c.2123C>A
1 paper
NM_178857.6
p.Q697*
c.2089C>T
2 papers
NM_178857.6
p.C696*
c.2088C>A
2 papers
NM_178857.6
p.T713S
c.2137A>T
2 papers
NM_178857.6
p.R692W
c.2074C>T
1 paper
NM_178857.6
p.S709_A715delFs
c.2127_2143del17
1 paper
NM_178857.6
p.R688G
c.2062A>G
1 paper
NM_178857.6
p.N718K
c.2154C>G
1 paper
NM_178857.6
p.N718K
c.2154C>A
1 paper
NM_178857.6
p.P687S
c.2059C>T
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