Varaico: Literature-Extracted Genetic Variants

Gene:FAM83H

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
1–12 of 202 variants
29 papers
NM_198488.5
p.Q398*
c.1192C>T
28 papers
NM_198488.5
p.R325*
c.973C>T
24 papers
NM_198488.5
p.Y297*
c.891T>G
23 papers
NM_198488.5
p.Y297*
c.891T>A
23 papers
NM_198488.5
p.Q677*
c.2029C>T
21 papers
NM_198488.5
p.S287*
c.860C>A
21 papers
NM_198488.5
p.W460*
c.1379G>A
20 papers
NM_198488.5
p.W460*
c.1380G>A
19 papers
NM_198488.5
p.E415*
c.1243G>T
19 papers
NM_198488.5
p.Q452*
c.1354C>T
19 papers
NM_198488.5
p.Q456*
c.1366C>T
19 papers
NM_198488.5
p.E694*
c.2080G>T
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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."