Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.T1194M

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
8 papers
NM_178857.6
p.T1194M
c.3581C>T
Surrounding Variants
8 papers
NM_178857.6
p.T1196I
c.3587C>T
1 paper
NM_178857.6
p.E1191*
c.3571G>T
8 papers
NM_178857.6
p.S1198F
c.3593C>T
1 paper
NM_178857.6
p.T1190M
c.3569C>T
2 papers
NM_178857.6
p.S1199A
c.3595T>G
10 papers
NM_178857.6
p.S1199P
c.3595T>C
21 papers
NM_178857.6
p.S1199C
c.3596C>G
1 paper
NM_178857.6
p.G1200C
c.3598G>T
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
10 papers
NM_178857.6
p.V1201G
c.3602T>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."