Varaico: Literature-Extracted Genetic Variants

Gene:FAM83H
Variant:p.P495L

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.P495L
c.1484C>T
Surrounding Variants
1 paper
NM_198488.5
p.P498L
c.1493C>T
1 paper
NM_198488.5
p.G492C
c.1474G>T
1 paper
NM_198488.5
p.E499K
c.1495G>A
1 paper
NM_198488.5
p.L500V
c.1498C>G
1 paper
NM_198488.5
p.G504R
c.1510G>C
1 paper
NM_198488.5
p.G504R
c.1510G>A
1 paper
NM_198488.5
p.A481A
c.1443G>A
1 paper
NM_198488.5
p.R480C
c.1438C>T
1 paper
NM_198488.5
p.G479D
c.1436G>A
16 papers
NM_198488.5
p.Q470*
c.1408C>T
9 papers
NM_198488.5
p.Q463*
c.1387C>T
20 papers
NM_198488.5
p.W460*
c.1380G>A
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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."