Varaico: Literature-Extracted Genetic Variants

Gene:FAM83H
Variant:p.T718M

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.T718M
c.2153C>T
Surrounding Variants
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.Q713*
c.2137C>T
1 paper
NM_198488.5
p.V726A
c.2177T>C
1 paper
NM_198488.5
p.L708L
c.2122C>T
1 paper
NM_198488.5
p.S728delFs
c.2184delG
1 paper
NM_198488.5
p.T703N
c.2108C>A
1 paper
NM_198488.5
p.E694E
c.2082G>A
19 papers
NM_198488.5
p.E694*
c.2080G>T
1 paper
NM_198488.5
p.R746C
c.2236C>T
1 paper
NM_198488.5
p.P748A
c.2242C>G
1 paper
NM_198488.5
p.A758G
c.2273C>G
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