Varaico: Literature-Extracted Genetic Variants

Gene:FAM135A
Variant:p.F1221C

FAM135A

63 papers

Pfam Domains

DUF3657aa 111–172UCSCProtein FAM135
DUF3657aa 111–172UCSCProtein FAM135
DUF676aa 1244–1440UCSCPutative serine esterase (DUF676)

Gene Aliases

HGNC Name

family with sequence similarity 135 member A

HGNC Previous Symbol

KIAA1411

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001162529.3
p.F1221C
c.3662T>G
Surrounding Variants
1 paper
NM_001162529.3
p.F1221F
c.3663C>T
5 papers
NM_001162529.3
p.D1242G
c.3725A>G
NM_020819.5
p.D1029G
c.3086A>G
1 paper
NM_001162529.3
p.D1242E
c.3726T>A
1 paper
NM_001162529.3
p.D1242E
c.3726T>G
1 paper
NM_001162529.3
p.V1248I
c.3742G>A
1 paper
NM_001162529.3
p.L1250P
c.3749T>C
1 paper
NM_001162529.3
p.Q1202L
c.3605A>T
1 paper
NM_001162529.3
p.C1152F
c.3455G>T
1 paper
NM_001162529.3
p.E1071K
c.3211G>A
1 paper
NM_001162529.3
p.T1014_V1015del2
c.3040_3044del6
1 paper
NM_001162529.3
p.V1002I
c.3004G>A
3 papers
NM_001162529.3
p.K997fs
c.2989_2990fs
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