Varaico: Literature-Extracted Genetic Variants

Gene:FAM47B
Variant:p.Y539_S540delFs

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
1 paper
NM_152631.3
p.Y539_S540delFs
c.1617_1618delTA
Surrounding Variants
1 paper
NM_152631.3
p.Y539fs
c.1615_1616fs
1 paper
NM_152631.3
p.A541S
c.1621G>T
1 paper
NM_152631.3
p.Q542Q
c.1626G>A
1 paper
NM_152631.3
p.A534V
c.1601C>T
2 papers
NM_152631.3
p.R543H
c.1628G>A
1 paper
NM_152631.3
p.R533P
c.1598G>C
3 papers
NM_152631.3
p.R532C
c.1594C>T
3 papers
NM_152631.3
p.R545_I546insFs
c.1635_1636insC
1 paper
NM_152631.3
p.I546fs
c.1636_1637fs
1 paper
NM_152631.3
p.I546fs
c.1636_1637fs
1 paper
NM_152631.3
p.D529H
c.1585G>C
1 paper
NM_152631.3
p.Y527*
c.1581C>A
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