Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.A1054S

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.A1054S
c.3160G>T
Surrounding Variants
1 paper
NM_178857.6
p.A1056E
c.3167C>A
1 paper
NM_178857.6
p.A1060V
c.3179C>T
1 paper
NM_178857.6
p.E1063D
c.3189G>T
1 paper
NM_178857.6
p.E1063D
c.3189G>C
1 paper
NM_178857.6
p.P1065L
c.3194C>T
1 paper
NM_178857.6
p.V1042D
c.3125T>A
1 paper
NM_178857.6
p.G1041A
c.3122G>C
1 paper
NM_178857.6
p.G1067A
c.3200G>C
2 papers
NM_178857.6
p.S1038L
c.3113C>T
1 paper
NM_178857.6
p.R1073W
c.3217C>T
2 papers
NM_178857.6
p.R1073Q
c.3218G>A
1 paper
NM_178857.6
p.S1031delFs
c.3092delC
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