Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.E1343A

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
2 papers
NM_178857.6
p.E1343A
c.4028A>C
Surrounding Variants
4 papers
NM_178857.6
p.E1343V
c.4028A>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
5 papers
NM_178857.6
p.E1343K
c.4027G>A
1 paper
NM_178857.6
p.T1344A
c.4030A>G
6 papers
NM_178857.6
p.E1343del1
c.4027_4028delTTC
4 papers
NM_178857.6
p.T1344I
c.4031C>T
2 papers
NM_178857.6
p.T1344T
c.4032A>G
4 papers
NM_178857.6
p.E1340_T1341delFs
c.4020_4021delTT
1 paper
NM_178857.6
p.T1341A
c.4021A>G
1 paper
NM_178857.6
p.E1340fs
c.4018_4019fs
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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."