Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.S564C

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.S564C
c.1691C>G
Surrounding Variants
1 paper
NM_178857.6
p.E567fs
c.1699_1700fs
1 paper
NM_178857.6
p.E567delFs
c.1700delT
2 papers
NM_178857.6
p.G571R
c.1711G>A
1 paper
NM_178857.6
p.D573N
c.1717G>A
1 paper
NM_178857.6
p.D573E
c.1719C>G
1 paper
NM_178857.6
p.D573E
c.1719C>A
1 paper
NM_178857.6
p.P577Q
c.1730C>A
2 papers
NM_178857.6
p.R551W
c.1651C>T
1 paper
NM_178857.6
p.L579P
c.1736T>C
6 papers
NM_178857.6
p.S546T
c.1637G>C
1 paper
NM_178857.6
p.S546N
c.1637G>A
1 paper
NM_178857.6
p.L584S
c.1751T>C
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