Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.G1348G

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.G1348G
c.4044A>G
Surrounding Variants
1 paper
NM_178857.6
p.Q1349K
c.4045C>A
1 paper
NM_178857.6
p.G1348R
c.4042G>C
1 paper
NM_178857.6
p.G1348R
c.4042G>A
1 paper
NM_178857.6
p.Q1349L
c.4046A>T
1 paper
NM_178857.6
p.E1347K
c.4039G>A
1 paper
NM_178857.6
p.G1346E
c.4037G>A
1 paper
NM_178857.6
p.E1351G
c.4052A>G
1 paper
NM_178857.6
p.E1351A
c.4052A>C
2 papers
NM_178857.6
p.T1344T
c.4032A>G
4 papers
NM_178857.6
p.T1344I
c.4031C>T
1 paper
NM_178857.6
p.E1353G
c.4058A>G
1 paper
NM_178857.6
p.T1344A
c.4030A>G
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