Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.S1210P

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
7 papers
NM_178857.6
p.S1210P
c.3628T>C
Surrounding Variants
1 paper
NM_178857.6
p.E1212K
c.3634G>A
1 paper
NM_178857.6
p.S1214R
c.3640A>C
1 paper
NM_178857.6
p.S1214R
c.3642C>G
1 paper
NM_178857.6
p.S1214R
c.3642C>A
10 papers
NM_178857.6
p.V1201G
c.3602T>G
1 paper
NM_178857.6
p.V1201A
c.3602T>C
1 paper
NM_178857.6
p.M1219V
c.3655A>G
12 papers
NM_178857.6
p.G1200V
c.3599G>T
10 papers
NM_178857.6
p.G1200A
c.3599G>C
12 papers
NM_178857.6
p.G1200D
c.3599G>A
1 paper
NM_178857.6
p.G1200C
c.3598G>T
1 paper
NM_178857.6
p.D1220D
c.3660C>T
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