Varaico: Literature-Extracted Genetic Variants

Gene:FAM47A
Variant:p.E238*

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.E238*
c.712G>T
Surrounding Variants
1 paper
NM_203408.4
p.E238G
c.713A>G
1 paper
NM_203408.4
p.P240P
c.720A>T
1 paper
NM_203408.4
p.L235I
c.703C>A
1 paper
NM_203408.4
p.G231R
c.691G>C
1 paper
NM_203408.4
p.G231R
c.691G>A
1 paper
NM_203408.4
p.T230S
c.688A>T
1 paper
NM_203408.4
p.E229K
c.685G>A
1 paper
NM_203408.4
p.L235_H246del0
c.703_738del36
1 paper
NM_203408.4
p.P249P
c.747G>A
1 paper
NM_203408.4
p.E226K
c.676G>A
1 paper
NM_203408.4
p.E241_P252del12
c.721_755del36
1 paper
NM_203408.4
p.V220M
c.658G>A
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