Varaico: Literature-Extracted Genetic Variants

Gene:FAM83H
Variant:p.H437Fs

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.H437Fs
c.1311delinsTAGFs
Surrounding Variants
2 papers
NM_198488.5
p.H437delins
c.1309_1311delinsTAG
2 papers
NM_198488.5
p.H437delins
c.1309_1311delinsTAA
2 papers
NM_198488.5
p.G438S
c.1312G>A
3 papers
NM_198488.5
p.H437Y
c.1309C>T
17 papers
NM_198488.5
p.Q444*
c.1330C>T
12 papers
NM_198488.5
p.S430*
c.1289C>A
1 paper
NM_198488.5
p.S446I
c.1337G>T
8 papers
NM_198488.5
p.Q428*
c.1282C>T
1 paper
NM_198488.5
p.R450H
c.1349G>A
1 paper
NM_198488.5
p.A424A
c.1272G>A
19 papers
NM_198488.5
p.Q452*
c.1354C>T
9 papers
NM_198488.5
p.E421*
c.1261G>T
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