Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.S546T

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
6 papers
NM_178857.6
p.S546T
c.1637G>C
Surrounding Variants
1 paper
NM_178857.6
p.S546N
c.1637G>A
1 paper
NM_178857.6
p.G544R
c.1630G>C
1 paper
NM_178857.6
p.G544R
c.1630G>A
2 papers
NM_178857.6
p.R551W
c.1651C>T
1 paper
NM_178857.6
p.S536T
c.1606T>A
1 paper
NM_178857.6
p.S533L
c.1598C>T
1 paper
NM_178857.6
p.A531fs
c.1591_1592fs
1 paper
NM_178857.6
p.A531insFs
c.1591dupG
2 papers
NM_178857.6
p.S564C
c.1691C>G
1 paper
NM_178857.6
p.R526Q
c.1577G>A
1 paper
NM_178857.6
p.E567fs
c.1699_1700fs
1 paper
NM_178857.6
p.E567delFs
c.1700delT
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