Varaico: Literature-Extracted Genetic Variants

Gene:FAM83B
Variant:p.E718D

FAM83B

91 papers

Pfam Domains

SACK1aa 12–282UCSCScaffolding anchor of CK1 domain

Gene Aliases

HGNC Name

family with sequence similarity 83 member B

HGNC Previous Symbol

C6orf143

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001010872.3
p.E718D
c.2154G>C
Surrounding Variants
1 paper
NM_001010872.3
p.E718D
c.2154G>T
1 paper
NM_001010872.3
p.S729T
c.2185T>A
1 paper
NM_001010872.3
p.D702V
c.2105A>T
1 paper
NM_001010872.3
p.T735T
c.2205C>A
1 paper
NM_001010872.3
p.E697K
c.2089G>A
1 paper
NM_001010872.3
p.E697*
c.2089G>T
1 paper
NM_001010872.3
p.E760Q
c.2278G>C
1 paper
NM_001010872.3
p.S764Y
c.2291C>A
2 papers
NM_001010872.3
p.G771W
c.2311G>T
1 paper
NM_001010872.3
p.S664T
c.1991G>C
1 paper
NM_001010872.3
p.R663*
c.1987C>T
1 paper
NM_001010872.3
p.S780I
c.2339G>T
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