Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.T1954A

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
5 papers
NM_178857.6
p.T1954A
c.5860A>G
Surrounding Variants
1 paper
NM_178857.6
p.T1954fs
c.5860_5861fs
2 papers
NM_178857.6
p.Q1953E
c.5857C>G
1 paper
NM_178857.6
p.Q1955H
c.5865G>T
1 paper
NM_178857.6
p.Q1955H
c.5865G>C
1 paper
NM_178857.6
p.E1957fs
c.5869_5870fs
1 paper
NM_178857.6
p.V1960D
c.5879T>A
1 paper
NM_178857.6
p.I1961L
c.5881A>T
1 paper
NM_178857.6
p.I1961V
c.5881A>G
1 paper
NM_178857.6
p.I1961L
c.5881A>C
1 paper
NM_178857.6
p.A1946A
c.5838G>T
5 papers
NM_178857.6
p.A1946E
c.5837C>A
2 papers
NM_178857.6
p.S1963A
c.5887T>G
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