Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.T1892A

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.T1892A
c.5674A>G
Surrounding Variants
1 paper
NM_178857.6
p.A1876_E1891del0
c.5626_5673del48
1 paper
NM_178857.6
p.S1887_D1889delFs
c.5660_5666del7
4 papers
NM_178857.6
p.D1889V
c.5666A>T
1 paper
NM_178857.6
p.D1889N
c.5665G>A
1 paper
NM_178857.6
p.D1873_E1886delFs
c.5618_5658del41
1 paper
NM_178857.6
p.E1886K
c.5656G>A
2 papers
NM_178857.6
p.V1899A
c.5696T>C
2 papers
NM_178857.6
p.E1882D
c.5646G>T
2 papers
NM_178857.6
p.E1882D
c.5646G>C
1 paper
NM_178857.6
p.E1902K
c.5704G>A
1 paper
NM_178857.6
p.E1902V
c.5705A>T
1 paper
NM_178857.6
p.G1881G
c.5643A>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."