Varaico: Literature-Extracted Genetic Variants

Gene:FAM83H
Variant:p.Q452*

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
19 papers
NM_198488.5
p.Q452*
c.1354C>T
Surrounding Variants
1 paper
NM_198488.5
p.R450H
c.1349G>A
5 papers
NM_198488.5
p.Q455*
c.1363C>T
19 papers
NM_198488.5
p.Q456*
c.1366C>T
6 papers
NM_198488.5
p.Q457*
c.1369C>T
1 paper
NM_198488.5
p.S446I
c.1337G>T
15 papers
NM_198488.5
p.Y458*
c.1374C>G
14 papers
NM_198488.5
p.Y458*
c.1374C>A
4 papers
NM_198488.5
p.Q459*
c.1375C>T
17 papers
NM_198488.5
p.Q444*
c.1330C>T
21 papers
NM_198488.5
p.W460*
c.1379G>A
20 papers
NM_198488.5
p.W460*
c.1380G>A
9 papers
NM_198488.5
p.Q463*
c.1387C>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."