Varaico: Literature-Extracted Genetic Variants

Gene:ERICH6B
Variant:p.L532F

ERICH6B

68 papers

Pfam Domains

FAM194aa 472–673UCSCFAM194 protein

Gene Aliases

HGNC Name

glutamate rich 6B

HGNC Previous Symbol

FAM194B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_182542.3
p.L532F
c.1594C>T
Surrounding Variants
1 paper
NM_182542.3
p.R530Q
c.1589G>A
1 paper
NM_182542.3
p.N534T
c.1601A>C
2 papers
NM_182542.3
p.T540A
c.1618A>G
1 paper
NM_182542.3
p.S524G
c.1570A>G
1 paper
NM_182542.3
p.E544K
c.1630G>A
1 paper
NM_182542.3
p.Y518C
c.1553A>G
1 paper
NM_182542.3
p.T494I
c.1481C>T
1 paper
NM_182542.3
p.T494A
c.1480A>G
1 paper
NM_182542.3
p.N482K
c.1446C>G
1 paper
NM_182542.3
p.N482K
c.1446C>A
1 paper
NM_182542.3
p.N482D
c.1444A>G
1 paper
NM_182542.3
p.D474V
c.1421A>T
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