Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.L2177S

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
4 papers
NM_178857.6
p.L2177S
c.6530T>C
Surrounding Variants
1 paper
NM_178857.6
p.L2177*
c.6530T>G
1 paper
NM_178857.6
p.L2177*
c.6530T>A
2 papers
NM_178857.6
p.Q2174Q
c.6522A>G
1 paper
NM_178857.6
p.Q2174H
c.6522A>C
2 papers
NM_178857.6
p.Q2174*
c.6520C>T
1 paper
NM_178857.6
p.Q2174K
c.6520C>A
1 paper
NM_178857.6
p.E2181D
c.6543G>T
1 paper
NM_178857.6
p.E2181D
c.6543G>C
2 papers
NM_178857.6
p.A2182D
c.6545C>A
3 papers
NM_178857.6
p.E2171K
c.6511G>A
1 paper
NM_178857.6
p.P2183P
c.6549A>T
1 paper
NM_178857.6
p.P2183P
c.6549A>G
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