Varaico: Literature-Extracted Genetic Variants

Gene:FAM47B
Variant:p.D619N

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.D619N
c.1855G>A
Surrounding Variants
1 paper
NM_152631.3
p.V606I
c.1816G>A
2 papers
NM_152631.3
p.G605G
c.1815C>A
1 paper
NM_152631.3
p.L597L
c.1789C>T
1 paper
NM_152631.3
p.G585S
c.1753G>A
1 paper
NM_152631.3
p.P572T
c.1714C>A
1 paper
NM_152631.3
p.F553L
c.1659C>A
1 paper
NM_152631.3
p.F553L
c.1659C>G
1 paper
NM_152631.3
p.F553L
c.1657T>C
1 paper
NM_152631.3
p.I546fs
c.1636_1637fs
1 paper
NM_152631.3
p.I546fs
c.1636_1637fs
3 papers
NM_152631.3
p.R545_I546insFs
c.1635_1636insC
2 papers
NM_152631.3
p.R543H
c.1628G>A
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