Varaico: Literature-Extracted Genetic Variants

Gene:RP1

RP1

729 papers

RefSeq Summary

This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded ...

Pfam Domains

DCXaa 54–112UCSCDoublecortin
DCXaa 171–227UCSCDoublecortin

Gene Aliases

HGNC Name

RP1 axonemal microtubule associated

HGNC Alias Symbols

DCDC4A; ORP1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 1249 variants
109 papers
NM_006269.2
p.R677*
c.2029C>T
42 papers
NM_006269.2
p.R1933*
c.5797C>T
28 papers
NM_006269.2
p.N985Y
c.2953A>T
27 papers
NM_006269.2
p.S542*
c.1625C>G
25 papers
NM_006269.2
p.I2061delFs
c.6181delA
24 papers
NM_006269.2
p.S542*
c.1625C>A
24 papers
NM_006269.2
p.C1399delFs
c.4196delG
22 papers
NM_006269.2
p.A1670T
c.5008G>A
21 papers
NM_006269.2
p.R872H
c.2615G>A
20 papers
NM_006269.2
p.S1691P
c.5071T>C
17 papers
NM_006269.2
p.D202E
c.606C>A
17 papers
NM_006269.2
p.D202E
c.606C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."