Varaico: Literature-Extracted Genetic Variants

Gene:FAM83H
Variant:p.A758G

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.A758G
c.2273C>G
Surrounding Variants
1 paper
NM_198488.5
p.P748A
c.2242C>G
1 paper
NM_198488.5
p.R746C
c.2236C>T
1 paper
NM_198488.5
p.S728delFs
c.2184delG
3 papers
NM_198488.5
p.S788N
c.2363G>A
1 paper
NM_198488.5
p.V726A
c.2177T>C
1 paper
NM_198488.5
p.L793fs
c.2377_2378fs
1 paper
NM_198488.5
p.L793delFs
c.2377delG
1 paper
NM_198488.5
p.D795N
c.2383G>A
1 paper
NM_198488.5
p.G720R
c.2158G>C
1 paper
NM_198488.5
p.G720R
c.2158G>A
1 paper
NM_198488.5
p.S796delFs
c.2388delG
1 paper
NM_198488.5
p.T718M
c.2153C>T
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