Varaico: Literature-Extracted Genetic Variants

Gene:FAM83H
Variant:p.P918insFs

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.P918insFs
c.2754dupC
Surrounding Variants
1 paper
NM_198488.5
p.V919fs
c.2755_2756fs
1 paper
NM_198488.5
p.S924G
c.2770A>G
1 paper
NM_198488.5
p.G913_R923del0
c.2737_2769del33
1 paper
NM_198488.5
p.G913G
c.2739T>C
1 paper
NM_198488.5
p.R923_S924del2
c.2767_2771del6
1 paper
NM_198488.5
p.V930fs
c.2788_2789fs
1 paper
NM_198488.5
p.P929delFs
c.2787delG
2 papers
NM_198488.5
p.S903N
c.2708G>A
1 paper
NM_198488.5
p.G896_F897insT
c.2686_2690ins3
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.G954E
c.2861G>A
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