Varaico: Literature-Extracted Genetic Variants

Gene:FAM83H
Variant:p.R355H

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.R355H
c.1064G>A
Surrounding Variants
1 paper
NM_198488.5
p.S352*
c.1055C>A
1 paper
NM_198488.5
p.G364delFs
c.1091delC
1 paper
NM_198488.5
p.A366V
c.1097C>T
8 papers
NM_198488.5
p.S342T
c.1024T>A
1 paper
NM_198488.5
p.F340_P341ins7
c.1020_1021ins21
1 paper
NM_198488.5
p.E336G
c.1007A>G
1 paper
NM_198488.5
p.L376F
c.1126C>T
6 papers
NM_198488.5
p.S377*
c.1130C>A
2 papers
NM_198488.5
p.S377delins
c.1130_1131delinsAA
1 paper
NM_198488.5
p.R378Q
c.1133G>A
7 papers
NM_198488.5
p.E383*
c.1147G>T
3 papers
NM_198488.5
p.A326delFs
c.977delG
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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."