Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.L1181fs

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.L1181fs
c.3541_3542fs
Surrounding Variants
1 paper
NM_178857.6
p.L1181delFs
c.3541delG
1 paper
NM_178857.6
p.T1190M
c.3569C>T
1 paper
NM_178857.6
p.E1191*
c.3571G>T
5 papers
NM_178857.6
p.L1172I
c.3514C>A
1 paper
NM_178857.6
p.G1171G
c.3513C>A
1 paper
NM_178857.6
p.S1170*
c.3509C>G
1 paper
NM_178857.6
p.S1170*
c.3509C>A
8 papers
NM_178857.6
p.T1194M
c.3581C>T
8 papers
NM_178857.6
p.T1196I
c.3587C>T
8 papers
NM_178857.6
p.S1198F
c.3593C>T
2 papers
NM_178857.6
p.S1199A
c.3595T>G
10 papers
NM_178857.6
p.S1199P
c.3595T>C
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