Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.K1138delFs

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.K1138delFs
c.3413delT
Surrounding Variants
1 paper
NM_178857.6
p.K1138delFs
c.3413_3414delTT
1 paper
NM_178857.6
p.K1138E
c.3412A>G
3 papers
NM_178857.6
p.K1138fs
c.3412_3413fs
3 papers
NM_178857.6
p.S1144F
c.3431C>T
5 papers
NM_178857.6
p.R1146W
c.3436C>T
1 paper
NM_178857.6
p.R1146Q
c.3437G>A
1 paper
NM_178857.6
p.F1128_E1130Fs
c.3384_3389delinsGAGGFs
1 paper
NM_178857.6
p.F1128fs
c.3382_3383fs
1 paper
NM_178857.6
p.S1170*
c.3509C>G
1 paper
NM_178857.6
p.S1170*
c.3509C>A
1 paper
NM_178857.6
p.G1171G
c.3513C>A
5 papers
NM_178857.6
p.L1172I
c.3514C>A
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