Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.A180T

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
2 papers
NM_178857.6
p.A180T
c.538G>A
Surrounding Variants
1 paper
NM_178857.6
p.L182V
c.544C>G
1 paper
NM_178857.6
p.L178_L182del0
c.534_545del12
1 paper
NM_178857.6
p.N177S
c.530A>G
1 paper
NM_178857.6
p.R176G
c.526A>G
2 papers
NM_178857.6
p.A185S
c.553G>T
1 paper
NM_178857.6
p.T175A
c.523A>G
1 paper
NM_178857.6
p.H172delFs
c.516delG
1 paper
NM_178857.6
p.L188P
c.563T>C
3 papers
NM_178857.6
p.R190C
c.568C>T
1 paper
NM_178857.6
p.Q166_V169del0
c.498_506del9
1 paper
NM_178857.6
p.P192H
c.575C>A
1 paper
NM_178857.6
p.T167T
c.501A>G
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