Varaico: Literature-Extracted Genetic Variants

Gene:FAM83H
Variant:p.R1000W

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
2 papers
NM_198488.5
p.R1000W
c.2998C>T
Surrounding Variants
2 papers
NM_198488.5
p.R1001H
c.3002G>A
1 paper
NM_198488.5
p.D983N
c.2947G>A
1 paper
NM_198488.5
p.R980H
c.2939G>A
1 paper
NM_198488.5
p.E978E
c.2934G>A
2 papers
NM_198488.5
p.A1030T
c.3088G>A
1 paper
NM_198488.5
p.S956C
c.2866A>T
1 paper
NM_198488.5
p.G954E
c.2861G>A
1 paper
NM_198488.5
p.R1055P
c.3164G>C
1 paper
NM_198488.5
p.G943R
c.2827G>C
1 paper
NM_198488.5
p.G943R
c.2827G>A
1 paper
NM_198488.5
p.P1062L
c.3185C>T
1 paper
NM_198488.5
p.V930fs
c.2788_2789fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."