Varaico: Literature-Extracted Genetic Variants

Gene:FAM47A
Variant:p.R262*

FAM47A

101 papers

Pfam Domains

FAM47aa 1–259UCSCFAM47 family
FAM47aa 256–373UCSCFAM47 family
FAM47aa 370–423UCSCFAM47 family
FAM47aa 419–542UCSCFAM47 family
FAM47aa 512–579UCSCFAM47 family

Gene Aliases

HGNC Name

family with sequence similarity 47 member A

HGNC Alias Symbol

MGC27003

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_203408.4
p.R262*
c.784C>T
Surrounding Variants
1 paper
NM_203408.4
p.R262Q
c.785G>A
1 paper
NM_203408.4
p.E241_P252del12
c.721_755del36
1 paper
NM_203408.4
p.P249P
c.747G>A
1 paper
NM_203408.4
p.D275Y
c.823G>T
1 paper
NM_203408.4
p.A276T
c.826G>A
1 paper
NM_203408.4
p.L235_H246del0
c.703_738del36
1 paper
NM_203408.4
p.R283Q
c.848G>A
1 paper
NM_203408.4
p.P240P
c.720A>T
1 paper
NM_203408.4
p.E238G
c.713A>G
1 paper
NM_203408.4
p.E238*
c.712G>T
1 paper
NM_203408.4
p.E289K
c.865G>A
1 paper
NM_203408.4
p.L235I
c.703C>A
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