Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.R342Fs

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.R342Fs
c.1024_1026delinsCTCCTFs
Surrounding Variants
1 paper
NM_178857.6
p.R342Fs
c.1026delinsCTCCTFs
1 paper
NM_178857.6
p.S340C
c.1019C>G
1 paper
NM_178857.6
p.R345W
c.1033A>T
1 paper
NM_178857.6
p.R345S
c.1035G>T
1 paper
NM_178857.6
p.R345S
c.1035G>C
1 paper
NM_178857.6
p.A346G
c.1037C>G
1 paper
NM_178857.6
p.L337delFs
c.1009_1010delAG
1 paper
NM_178857.6
p.A348V
c.1043C>T
1 paper
NM_178857.6
p.T350M
c.1049C>T
1 paper
NM_178857.6
p.E334fs
c.1000_1001fs
1 paper
NM_178857.6
p.S353T
c.1058G>C
1 paper
NM_178857.6
p.P357L
c.1070C>T
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