Varaico: Literature-Extracted Genetic Variants

Gene:FAM83H
Variant:p.P312R

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.P312R
c.935C>G
Surrounding Variants
1 paper
NM_198488.5
p.G310insFs
c.930dupC
5 papers
NM_198488.5
p.V311fs
c.931_932fs
2 papers
NM_198488.5
p.G310_G313insFs
c.930_939dup10
2 papers
NM_198488.5
p.V314fs
c.940_941fs
6 papers
NM_198488.5
p.V309fs
c.925_926fs
8 papers
NM_198488.5
p.L308delFs
c.923_924delGA
3 papers
NM_198488.5
p.L308insFs
c.923dupT
1 paper
NM_198488.5
p.L308fs
c.922_923fs
7 papers
NM_198488.5
p.L308fs
c.922_923fs
1 paper
NM_198488.5
p.G306E
c.917G>A
2 papers
NM_198488.5
p.G304R
c.910G>A
11 papers
NM_198488.5
p.Y302*
c.906T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."