Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.G444R

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.G444R
c.1330G>A
Surrounding Variants
1 paper
NM_178857.6
p.G444R
c.1330G>C
1 paper
NM_178857.6
p.R445R
c.1335G>A
1 paper
NM_178857.6
p.H440delFs
c.1319_1320delGT
1 paper
NM_178857.6
p.H440H
c.1320C>T
3 papers
NM_178857.6
p.H440L
c.1319A>T
4 papers
NM_178857.6
p.H440R
c.1319A>G
1 paper
NM_178857.6
p.S449R
c.1345A>C
3 papers
NM_178857.6
p.W438delFs
c.1312_1313delCA
1 paper
NM_178857.6
p.S449R
c.1347C>G
1 paper
NM_178857.6
p.S449R
c.1347C>A
2 papers
NM_178857.6
p.G436_L437delFs
c.1308_1309delGG
1 paper
NM_178857.6
p.G436D
c.1307G>A
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