Varaico: Literature-Extracted Genetic Variants

Gene:FAM83H
Variant:p.L823V

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.L823V
c.2467C>G
Surrounding Variants
1 paper
NM_198488.5
p.R825Q
c.2474G>A
1 paper
NM_198488.5
p.Q818*
c.2452C>T
1 paper
NM_198488.5
p.P832S
c.2494C>T
1 paper
NM_198488.5
p.G810R
c.2428G>A
1 paper
NM_198488.5
p.S837Y
c.2510C>A
1 paper
NM_198488.5
p.P845P
c.2535G>A
1 paper
NM_198488.5
p.Q800R
c.2399A>G
1 paper
NM_198488.5
p.S796delFs
c.2388delG
1 paper
NM_198488.5
p.D795N
c.2383G>A
1 paper
NM_198488.5
p.L793delFs
c.2377delG
1 paper
NM_198488.5
p.L793fs
c.2377_2378fs
3 papers
NM_198488.5
p.S788N
c.2363G>A
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