Varaico: Literature-Extracted Genetic Variants

Gene:FBXO38
Variant:p.S592P

FBXO38

96 papers

RefSeq Summary

This gene encodes a large protein that contains an F-box domain and may participate in protein ubiquitination. The encoded protein is a transcriptional co-activator of Krueppel-like factor 7 (Klf7). A...

Pfam Domains

F-boxaa 30–69UCSCF-box domain

Gene Aliases

HGNC Name

F-box protein 38

HGNC Alias Symbols

MOKA; SP329; FLJ13962; Fbx38

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_205836.3
p.S592P
c.1774T>C
Surrounding Variants
1 paper
NM_205836.3
p.V595L
c.1783G>C
2 papers
NM_205836.3
p.R621H
c.1862G>A
1 paper
NM_205836.3
p.E637delFs
c.1909delG
1 paper
NM_205836.3
p.E637fs
c.1909_1910fs
1 paper
NM_205836.3
p.V548I
c.1642G>A
1 paper
NM_205836.3
p.E679V
c.2036A>T
2 papers
NM_205836.3
p.N697insFs
c.2090dupA
2 papers
NM_205836.3
p.N697fs
c.2089_2090fs
1 paper
NM_205836.3
p.C704S
c.2110T>A
1 paper
NM_205836.3
p.C704S
c.2111G>C
1 paper
NM_205836.3
p.G713E
c.2138G>A
1 paper
NM_205836.3
p.S716G
c.2146A>G
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