Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.A624T

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.A624T
c.1870G>A
Surrounding Variants
1 paper
NM_178857.6
p.P628R
c.1883C>G
1 paper
NM_178857.6
p.T630I
c.1889C>T
1 paper
NM_178857.6
p.L613L
c.1837C>T
1 paper
NM_178857.6
p.A604V
c.1811C>T
1 paper
NM_178857.6
p.A645S
c.1933G>T
1 paper
NM_178857.6
p.A645G
c.1934C>G
1 paper
NM_178857.6
p.S646T
c.1937G>C
1 paper
NM_178857.6
p.E599K
c.1795G>A
1 paper
NM_178857.6
p.T598delFs
c.1793delG
2 papers
NM_178857.6
p.T593M
c.1778C>T
1 paper
NM_178857.6
p.S652_G657delFs
c.1954_1969del16
16 papers
NM_178857.6
p.R658*
c.1972C>T
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