Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.T1327delins

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.T1327delins
c.3981delinsGGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA
Surrounding Variants
1 paper
NM_178857.6
p.T1327T
c.3981A>G
2 papers
NM_178857.6
p.E1328K
c.3982G>A
2 papers
NM_178857.6
p.T1327I
c.3980C>T
3 papers
NM_178857.6
p.T1327ins11
c.3980_3981ins33
1 paper
NM_178857.6
p.T1327ins11
c.3980_3981ins33
1 paper
NM_178857.6
p.T1327insFs
c.3980_3981ins16
2 papers
NM_178857.6
p.E1328V
c.3983A>T
1 paper
NM_178857.6
p.T1327S
c.3979A>T
1 paper
NM_178857.6
p.T1327A
c.3979A>G
1 paper
NM_178857.6
p.E1328A
c.3983A>C
3 papers
NM_178857.6
p.E1328ins5
c.3983_3984ins15
2 papers
NM_178857.6
p.T1327ins1
c.3979_3980insGAA
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