Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.Y1673delFs

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
Selected Variant
3 papers
NM_006269.2
p.Y1673delFs
c.5017delT
Surrounding Variants
2 papers
NM_006269.2
p.Y1673fs
c.5017_5018fs
22 papers
NM_006269.2
p.A1670T
c.5008G>A
1 paper
NM_006269.2
p.Q1678*
c.5032C>T
1 paper
NM_006269.2
p.E1663*
c.4987G>T
1 paper
NM_006269.2
p.V1656G
c.4967T>G
1 paper
NM_006269.2
p.S1689N
c.5066G>A
1 paper
NM_006269.2
p.S1654F
c.4961C>T
20 papers
NM_006269.2
p.S1691P
c.5071T>C
2 papers
NM_006269.2
p.K1653insFs
c.4957_4958insA
2 papers
NM_006269.2
p.R1652H
c.4955G>A
4 papers
NM_006269.2
p.R1652L
c.4955G>T
1 paper
NM_006269.2
p.P1648S
c.4942C>T
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