Varaico: Literature-Extracted Genetic Variants

Gene:FAM217A
Variant:p.S340R

FAM217A

27 papers

Pfam Domains

FAM217aa 203–404UCSCFAM217 family

Gene Aliases

HGNC Name

family with sequence similarity 217 member A

HGNC Previous Symbol

C6orf146

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173563.3
p.S340R
c.1020T>A
Surrounding Variants
1 paper
NM_173563.3
p.S340R
c.1020T>G
1 paper
NM_173563.3
p.S340R
c.1018A>C
1 paper
NM_173563.3
p.S357P
c.1069T>C
1 paper
NM_173563.3
p.C313*
c.939T>A
1 paper
NM_173563.3
p.H298L
c.893A>T
1 paper
NM_173563.3
p.Q394H
c.1182A>T
1 paper
NM_173563.3
p.Q394H
c.1182A>C
1 paper
NM_173563.3
p.E413K
c.1237G>A
1 paper
NM_173563.3
p.A258T
c.772G>A
3 papers
NM_173563.3
p.V431I
c.1291G>A
1 paper
NM_173563.3
p.W438*
c.1313G>A
1 paper
NM_173563.3
p.W438*
c.1314G>A
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