Varaico: Literature-Extracted Genetic Variants

Gene:FAM83H
Variant:p.L376F

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.L376F
c.1126C>T
Surrounding Variants
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
1 paper
NM_198488.5
p.A366V
c.1097C>T
1 paper
NM_198488.5
p.P386S
c.1156C>T
1 paper
NM_198488.5
p.G364delFs
c.1091delC
1 paper
NM_198488.5
p.P386P
c.1158G>A
2 papers
NM_198488.5
p.G392D
c.1175G>A
1 paper
NM_198488.5
p.R355H
c.1064G>A
29 papers
NM_198488.5
p.Q398*
c.1192C>T
1 paper
NM_198488.5
p.Q398K
c.1192C>A
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