Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.A976V

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.A976V
c.2927C>T
Surrounding Variants
2 papers
NM_178857.6
p.L975M
c.2923T>A
1 paper
NM_178857.6
p.Y973C
c.2918A>G
1 paper
NM_178857.6
p.T972I
c.2915C>T
1 paper
NM_178857.6
p.L970F
c.2908C>T
1 paper
NM_178857.6
p.G985R
c.2953G>C
1 paper
NM_178857.6
p.E967K
c.2899G>A
1 paper
NM_178857.6
p.E991Q
c.2971G>C
4 papers
NM_178857.6
p.W960C
c.2880G>T
4 papers
NM_178857.6
p.W960C
c.2880G>C
13 papers
NM_178857.6
p.W960R
c.2878T>C
13 papers
NM_178857.6
p.W960R
c.2878T>A
1 paper
NM_178857.6
p.D993N
c.2977G>A
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