Varaico: Literature-Extracted Genetic Variants

Gene:FAM117B
Variant:p.P170_A172del3

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
2 papers
NM_173511.4
p.P170_A172del3
c.508_515del9
Surrounding Variants
1 paper
NM_173511.4
p.R175W
c.523C>T
1 paper
NM_173511.4
p.S192C
c.574A>T
1 paper
NM_173511.4
p.P144delFs
c.430delC
1 paper
NM_173511.4
p.G114insFs
c.340_341insCC
1 paper
NM_173511.4
p.S89L
c.266C>T
1 paper
NM_173511.4
p.G84del1
c.250_251delGGC
1 paper
NM_173511.4
p.G80G
c.240C>T
1 paper
NM_173511.4
p.G82_G83del1
c.246_248delCGG
1 paper
NM_173511.4
p.G71S
c.211G>A
2 papers
NM_173511.4
p.S57_G58del1
c.170_172delGCG
1 paper
NM_173511.4
p.S57_G58del2
c.169_173del6
1 paper
NM_173511.4
p.L43M
c.127C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."