Varaico: Literature-Extracted Genetic Variants

Gene:ERICH6B
Variant:p.E54D

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.E54D
c.162G>C
Surrounding Variants
1 paper
NM_182542.3
p.E54D
c.162G>T
1 paper
NM_182542.3
p.E57*
c.169G>T
1 paper
NM_182542.3
p.D58N
c.172G>A
1 paper
NM_182542.3
p.S50S
c.150T>A
3 papers
NM_182542.3
p.D45_S47delFs
c.135_141del7
1 paper
NM_182542.3
p.D45_S47delFs
c.133_139del7
1 paper
NM_182542.3
p.E46D
c.138A>T
1 paper
NM_182542.3
p.E63*
c.187G>T
1 paper
NM_182542.3
p.E46G
c.137A>G
1 paper
NM_182542.3
p.D45E
c.135T>A
1 paper
NM_182542.3
p.L62_E63del0
c.184_189del6
1 paper
NM_182542.3
p.E65D
c.195A>T
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