Varaico: Literature-Extracted Genetic Variants

Gene:FAM83H
Variant:p.L614V

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.L614V
c.1840C>G
Surrounding Variants
1 paper
NM_198488.5
p.A615P
c.1843G>C
2 papers
NM_198488.5
p.E610*
c.1828G>T
1 paper
NM_198488.5
p.P621L
c.1862C>T
5 papers
NM_198488.5
p.L625fs
c.1873_1874fs
7 papers
NM_198488.5
p.D624_L625delFs
c.1872_1873delGG
1 paper
NM_198488.5
p.L625fs
c.1873_1874fs
1 paper
NM_198488.5
p.S628*
c.1883C>A
1 paper
NM_198488.5
p.D594G
c.1781A>G
7 papers
NM_198488.5
p.K639*
c.1915A>T
1 paper
NM_198488.5
p.V640I
c.1918G>A
4 papers
NM_198488.5
p.E659*
c.1975G>T
1 paper
NM_198488.5
p.E567delFs
c.1699delC
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