Varaico: Literature-Extracted Genetic Variants

Gene:FAM83D
Variant:p.L4L

FAM83D

35 papers

Pfam Domains

SACK1aa 17–296UCSCScaffolding anchor of CK1 domain

Gene Aliases

HGNC Name

family with sequence similarity 83 member D

HGNC Previous Symbol

C20orf129

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030919.3
p.L4L
c.12G>C
Surrounding Variants
1 paper
NM_030919.3
p.A2G
c.5C>G
1 paper
NM_030919.3
p.V11L
c.31G>C
1 paper
NM_030919.3
p.V11L
c.31G>T
1 paper
NM_030919.3
p.L51L
c.153G>A
1 paper
NM_030919.3
p.A84_A86ins1
c.252_257dup6
1 paper
NM_030919.3
p.A81_A82ins1
c.243_244insAGC
1 paper
NM_030919.3
p.S89L
c.266C>T
1 paper
NM_030919.3
p.H94R
c.281A>G
1 paper
NM_030919.3
p.F102L
c.306C>G
1 paper
NM_030919.3
p.P111Q
c.332C>A
1 paper
NM_030919.3
p.Y125insFs
c.373dupT
1 paper
NM_030919.3
p.Y125fs
c.373_374fs
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