Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.E2099D

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.E2099D
c.6297A>T
Surrounding Variants
1 paper
NM_178857.6
p.E2099D
c.6297A>C
1 paper
NM_178857.6
p.E2099K
c.6295G>A
1 paper
NM_178857.6
p.E2097D
c.6291A>T
2 papers
NM_178857.6
p.E2097E
c.6291A>G
1 paper
NM_178857.6
p.E2097D
c.6291A>C
1 paper
NM_178857.6
p.E2102Q
c.6304G>C
1 paper
NM_178857.6
p.P2104P
c.6312A>G
1 paper
NM_178857.6
p.A2106A
c.6318A>T
1 paper
NM_178857.6
p.G2108V
c.6323G>T
1 paper
NM_178857.6
p.G2108E
c.6323G>A
1 paper
NM_178857.6
p.E2109V
c.6326A>T
1 paper
NM_178857.6
p.Q2088H
c.6264G>T
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