Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.K2043E

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.K2043E
c.6127A>G
Surrounding Variants
1 paper
NM_178857.6
p.K2043*
c.6127A>T
1 paper
NM_178857.6
p.T2044A
c.6130A>G
3 papers
NM_178857.6
p.E2040*
c.6118G>T
1 paper
NM_178857.6
p.D2047E
c.6141T>G
1 paper
NM_178857.6
p.D2047E
c.6141T>A
1 paper
NM_178857.6
p.A2048A
c.6144C>G
1 paper
NM_178857.6
p.Q2049H
c.6147G>T
1 paper
NM_178857.6
p.Q2049H
c.6147G>C
1 paper
NM_178857.6
p.E2036A
c.6107A>C
4 papers
NM_178857.6
p.P2050S
c.6148C>T
1 paper
NM_178857.6
p.D2053D
c.6159C>T
4 papers
NM_178857.6
p.D2053E
c.6159C>G
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