Varaico: Literature-Extracted Genetic Variants

Gene:FAM47B
Variant:p.R200H

FAM47B

80 papers

Pfam Domains

FAM47aa 1–252UCSCFAM47 family
FAM47aa 237–294UCSCFAM47 family
FAM47aa 283–343UCSCFAM47 family
FAM47aa 341–451UCSCFAM47 family

Gene Aliases

HGNC Name

family with sequence similarity 47 member B

HGNC Alias Symbol

FLJ35782

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_152631.3
p.R200H
c.599G>A
Surrounding Variants
1 paper
NM_152631.3
p.Q202*
c.604C>T
1 paper
NM_152631.3
p.K205N
c.615G>C
1 paper
NM_152631.3
p.K205N
c.615G>T
1 paper
NM_152631.3
p.T206T
c.618T>G
1 paper
NM_152631.3
p.P189P
c.567G>A
1 paper
NM_152631.3
p.C188F
c.563G>T
2 papers
NM_152631.3
p.Y182H
c.544T>C
1 paper
NM_152631.3
p.K181N
c.543A>C
1 paper
NM_152631.3
p.K181N
c.543A>T
1 paper
NM_152631.3
p.R219W
c.655C>T
1 paper
NM_152631.3
p.R231L
c.692G>T
1 paper
NM_152631.3
p.P237P
c.711G>A
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