Varaico: Literature-Extracted Genetic Variants

Gene:FAM135B
Variant:p.E1050*

FAM135B

187 papers

Pfam Domains

DUF3657aa 111–172UCSCProtein FAM135
DUF676aa 1135–1331UCSCPutative serine esterase (DUF676)

Gene Aliases

HGNC Name

family with sequence similarity 135 member B

HGNC Alias Symbol

C8ORFK32

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015912.4
p.E1050*
c.3148G>T
Surrounding Variants
1 paper
NM_015912.4
p.E1050G
c.3149A>G
1 paper
NM_015912.4
p.V1047M
c.3139G>A
1 paper
NM_015912.4
p.F1057L
c.3171C>A
1 paper
NM_015912.4
p.C1037Y
c.3110G>A
2 papers
NM_015912.4
p.P1065S
c.3193C>T
1 paper
NM_015912.4
p.P1070H
c.3209C>A
1 paper
NM_015912.4
p.L1071F
c.3213G>T
1 paper
NM_015912.4
p.L1071F
c.3213G>C
1 paper
NM_015912.4
p.V1077F
c.3229G>T
1 paper
NM_015912.4
p.E1018D
c.3054G>T
1 paper
NM_015912.4
p.E1018D
c.3054G>C
1 paper
NM_015912.4
p.T1083S
c.3247A>T
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