Varaico: Literature-Extracted Genetic Variants

Gene:FAM83H
Variant:p.F340_P341ins7

FAM83H

163 papers

RefSeq Summary

The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [pro...

Pfam Domains

SACK1aa 12–283UCSCScaffolding anchor of CK1 domain

Gene Aliases

HGNC Name

family with sequence similarity 83 member H

HGNC Alias Symbol

FLJ46072

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198488.5
p.F340_P341ins7
c.1020_1021ins21
Surrounding Variants
8 papers
NM_198488.5
p.S342T
c.1024T>A
1 paper
NM_198488.5
p.E336G
c.1007A>G
1 paper
NM_198488.5
p.S352*
c.1055C>A
3 papers
NM_198488.5
p.A326delFs
c.977delG
1 paper
NM_198488.5
p.R355H
c.1064G>A
28 papers
NM_198488.5
p.R325*
c.973C>T
1 paper
NM_198488.5
p.G364delFs
c.1091delC
1 paper
NM_198488.5
p.A366V
c.1097C>T
2 papers
NM_198488.5
p.G310_G313insFs
c.930_939dup10
2 papers
NM_198488.5
p.V314fs
c.940_941fs
1 paper
NM_198488.5
p.P312R
c.935C>G
1 paper
NM_198488.5
p.G310insFs
c.930dupC
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