Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.E1334E

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
1 paper
NM_178857.6
p.E1334E
c.4002G>A
Surrounding Variants
1 paper
NM_178857.6
p.G1335R
c.4003G>C
1 paper
NM_178857.6
p.G1335R
c.4003G>A
12 papers
NM_178857.6
p.G1335V
c.4004G>T
1 paper
NM_178857.6
p.G1335A
c.4004G>C
1 paper
NM_178857.6
p.V1336M
c.4006G>A
2 papers
NM_178857.6
p.E1333*
c.3997G>T
1 paper
NM_178857.6
p.Q1337*
c.4009C>T
1 paper
NM_178857.6
p.Q1337K
c.4009C>A
1 paper
NM_178857.6
p.Q1332*
c.3994C>T
1 paper
NM_178857.6
p.Q1337H
c.4011G>T
1 paper
NM_178857.6
p.Q1337H
c.4011G>C
1 paper
NM_178857.6
p.L1331R
c.3992T>G
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