Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.E1375E

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.E1375E
c.4125G>A
Surrounding Variants
2 papers
NM_178857.6
p.V1377I
c.4129G>A
2 papers
NM_178857.6
p.V1377A
c.4130T>C
1 paper
NM_178857.6
p.K1378E
c.4132A>G
1 paper
NM_178857.6
p.V1372delFs
c.4114delC
1 paper
NM_178857.6
p.E1379K
c.4135G>A
1 paper
NM_178857.6
p.E1379A
c.4136A>C
1 paper
NM_178857.6
p.G1371A
c.4112G>C
1 paper
NM_178857.6
p.E1369K
c.4105G>A
2 papers
NM_178857.6
p.G1384A
c.4151G>C
1 paper
NM_178857.6
p.G1364E
c.4091G>A
1 paper
NM_178857.6
p.G1387E
c.4160G>A
1 paper
NM_178857.6
p.G1363A
c.4088G>C
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