Varaico: Literature-Extracted Genetic Variants

Gene:FAM47A
Variant:p.Y674*

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.Y674*
c.2022C>A
Surrounding Variants
1 paper
NM_203408.4
p.Y674*
c.2022C>G
1 paper
NM_203408.4
p.G676A
c.2027G>C
2 papers
NM_203408.4
p.A688T
c.2062G>A
1 paper
NM_203408.4
p.Y695H
c.2083T>C
1 paper
NM_203408.4
p.K645Q
c.1933A>C
1 paper
NM_203408.4
p.P633L
c.1898C>T
1 paper
NM_203408.4
p.L628M
c.1882C>A
1 paper
NM_203408.4
p.K723N
c.2169G>T
1 paper
NM_203408.4
p.K723N
c.2169G>C
1 paper
NM_203408.4
p.P724S
c.2170C>T
1 paper
NM_203408.4
p.P724L
c.2171C>T
1 paper
NM_203408.4
p.D728delFs
c.2184delG
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