Varaico: Literature-Extracted Genetic Variants

Gene:FAM9A
Variant:p.E230K

FAM9A

22 papers

RefSeq Summary

This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be a nuclear protein that is localized to the nucleolus, and has some similarity to ...

Gene Aliases

HGNC Name

family with sequence similarity 9 member A

HGNC Alias Symbol

TEX39A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_174951.3
p.E230K
c.688G>A
Surrounding Variants
1 paper
NM_174951.3
p.E231E
c.693G>A
1 paper
NM_174951.3
p.E232K
c.694G>A
1 paper
NM_174951.3
p.E232E
c.696G>A
1 paper
NM_174951.3
p.K233E
c.697A>G
1 paper
NM_174951.3
p.K227E
c.679A>G
2 papers
NM_174951.3
p.E232del1
c.694_696delCTC
1 paper
NM_174951.3
p.K233_E234insFs
c.699_700insCA
1 paper
NM_174951.3
p.E234Fs
c.700delinsCAGFs
1 paper
NM_174951.3
p.E225E
c.675A>G
1 paper
NM_174951.3
p.E234fs
c.700_701fs
1 paper
NM_174951.3
p.E235E
c.705G>A
1 paper
NM_174951.3
p.E238*
c.712G>T
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