Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.S377*

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.S377*
c.1130C>G
Surrounding Variants
1 paper
NM_178857.6
p.S377*
c.1130C>A
1 paper
NM_178857.6
p.E378D
c.1134G>T
1 paper
NM_178857.6
p.E378D
c.1134G>C
6 papers
NM_178857.6
p.G380R
c.1138G>C
7 papers
NM_178857.6
p.G380R
c.1138G>A
1 paper
NM_178857.6
p.W374*
c.1122G>A
1 paper
NM_178857.6
p.W374*
c.1121G>A
1 paper
NM_178857.6
p.W382G
c.1144T>G
1 paper
NM_178857.6
p.G371V
c.1112G>T
6 papers
NM_178857.6
p.W369*
c.1107G>A
2 papers
NM_178857.6
p.R385W
c.1153C>T
6 papers
NM_178857.6
p.W369*
c.1106G>A
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