Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.T2121A

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.T2121A
c.6361A>G
Surrounding Variants
1 paper
NM_178857.6
p.I2116_E2117insFs
c.6347_6350dup4
1 paper
NM_178857.6
p.E2117fs
c.6349_6350fs
1 paper
NM_178857.6
p.E2128K
c.6382G>A
1 paper
NM_178857.6
p.A2110A
c.6330C>A
3 papers
NM_178857.6
p.I2132V
c.6394A>G
1 paper
NM_178857.6
p.E2109V
c.6326A>T
1 paper
NM_178857.6
p.E2133A
c.6398A>C
1 paper
NM_178857.6
p.G2108V
c.6323G>T
1 paper
NM_178857.6
p.G2108E
c.6323G>A
1 paper
NM_178857.6
p.A2134T
c.6400G>A
1 paper
NM_178857.6
p.P2135Q
c.6404C>A
1 paper
NM_178857.6
p.A2106A
c.6318A>T
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