Varaico: Literature-Extracted Genetic Variants

Gene:FAM135B
Variant:p.Q499E

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
1 paper
NM_015912.4
p.Q499E
c.1495C>G
Surrounding Variants
1 paper
NM_015912.4
p.D493N
c.1477G>A
1 paper
NM_015912.4
p.V486L
c.1456G>T
1 paper
NM_015912.4
p.V486L
c.1456G>C
1 paper
NM_015912.4
p.P482P
c.1446A>G
2 papers
NM_015912.4
p.P482delins
c.1445_1446delinsTG
6 papers
NM_015912.4
p.P482L
c.1445C>T
1 paper
NM_015912.4
p.D516H
c.1546G>C
1 paper
NM_015912.4
p.P482A
c.1444C>G
1 paper
NM_015912.4
p.E481K
c.1441G>A
1 paper
NM_015912.4
p.G521R
c.1561G>C
4 papers
NM_015912.4
p.I477V
c.1429A>G
1 paper
NM_015912.4
p.D525A
c.1574A>C
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