Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.T1341A

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.T1341A
c.4021A>G
Surrounding Variants
4 papers
NM_178857.6
p.E1340_T1341delFs
c.4020_4021delTT
1 paper
NM_178857.6
p.E1340fs
c.4018_4019fs
1 paper
NM_178857.6
p.E1340V
c.4019A>T
11 papers
NM_178857.6
p.E1340G
c.4019A>G
5 papers
NM_178857.6
p.E1340ins16
c.4018_4019ins48
1 paper
NM_178857.6
p.E1340insFs
c.4018_4019ins49
1 paper
NM_178857.6
p.E1324_E1339delFs
c.3971_4016del46
1 paper
NM_178857.6
p.E1339G
c.4016A>G
1 paper
NM_178857.6
p.E1339*
c.4015G>T
1 paper
NM_178857.6
p.K1342_E1343insFs
c.4026_4027ins11
1 paper
NM_178857.6
p.K1342_E1343insFs
c.4026_4027insAC
1 paper
NM_178857.6
p.K1342_E1343insFs
c.4026_4027ins5
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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."