Varaico: Literature-Extracted Genetic Variants

Gene:FAM47B

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
1–12 of 89 variants
3 papers
NM_152631.3
p.R532C
c.1594C>T
3 papers
NM_152631.3
p.R545_I546insFs
c.1635_1636insC
2 papers
NM_152631.3
p.P25L
c.74C>T
2 papers
NM_152631.3
p.Q111*
c.331C>T
2 papers
NM_152631.3
p.Y182H
c.544T>C
2 papers
NM_152631.3
p.R200H
c.599G>A
2 papers
NM_152631.3
p.R543H
c.1628G>A
2 papers
NM_152631.3
p.G605G
c.1815C>A
1 paper
NM_152631.3
p.M1L
c.1A>C
1 paper
NM_152631.3
p.M1L
c.1A>T
1 paper
NM_152631.3
p.P10S
c.28C>T
1 paper
NM_152631.3
p.S12P
c.34T>C
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