Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.E2156D

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.E2156D
c.6468G>T
Surrounding Variants
2 papers
NM_178857.6
p.E2156D
c.6468G>C
3 papers
NM_178857.6
p.D2152E
c.6456T>G
3 papers
NM_178857.6
p.D2152E
c.6456T>A
1 paper
NM_178857.6
p.A2150S
c.6448G>T
1 paper
NM_178857.6
p.I2164V
c.6490A>G
2 papers
NM_178857.6
p.E2144A
c.6431A>C
1 paper
NM_178857.6
p.P2143P
c.6429T>A
1 paper
NM_178857.6
p.P2127_P2143del0
c.6381_6428del48
3 papers
NM_178857.6
p.E2171K
c.6511G>A
1 paper
NM_178857.6
p.Q2142L
c.6425A>T
2 papers
NM_178857.6
p.E2140*
c.6418G>T
3 papers
NM_178857.6
p.E2140K
c.6418G>A
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