Varaico: Literature-Extracted Genetic Variants

Gene:FAM117B
Variant:p.N405K

FAM117B

39 papers

Pfam Domains

FAM117aa 215–529UCSCProtein Family FAM117

Gene Aliases

HGNC Name

family with sequence similarity 117 member B

HGNC Previous Symbol

ALS2CR13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173511.4
p.N405K
c.1215C>G
Surrounding Variants
1 paper
NM_173511.4
p.N405K
c.1215C>A
1 paper
NM_173511.4
p.P380insFs
c.1138dupC
1 paper
NM_173511.4
p.P379fs
c.1135_1136fs
1 paper
NM_173511.4
p.P369L
c.1106C>T
1 paper
NM_173511.4
p.I368T
c.1103T>C
1 paper
NM_173511.4
p.R343Q
c.1028G>A
1 paper
NM_173511.4
p.S326N
c.977G>A
1 paper
NM_173511.4
p.P322S
c.964C>T
1 paper
NM_173511.4
p.G473A
c.1418G>C
2 papers
NM_173511.4
p.K478R
c.1433A>G
1 paper
NM_173511.4
p.E490Q
c.1468G>C
1 paper
NM_173511.4
p.P525R
c.1574C>G
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