Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN11
Variant:p.G48A

SEPTIN11

25 papers

RefSeq Summary

SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al.,...

Pfam Domains

Septinaa 38–311UCSCSeptin

Gene Aliases

HGNC Name

septin 11

HGNC Previous Symbol

SEPT11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018243.4
p.G48A
c.143G>C
Surrounding Variants
1 paper
NM_018243.4
p.F40L
c.120C>A
1 paper
NM_018243.4
p.F40L
c.120C>G
1 paper
NM_018243.4
p.F40S
c.119T>C
1 paper
NM_018243.4
p.F40L
c.118T>C
1 paper
NM_018243.4
p.Q38E
c.112C>G
1 paper
NM_018243.4
p.L16L
c.48G>A
1 paper
NM_018243.4
p.D59delins
c.176delinsTGTG
1 paper
NM_018243.4
p.R79W
c.235C>T
1 paper
NM_018243.4
p.E89insFs
c.265dupG
1 paper
NM_018243.4
p.E89fs
c.265_266fs
1 paper
NM_018243.4
p.V92A
c.275T>C
1 paper
NM_018243.4
p.D111N
c.331G>A
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