Varaico: Literature-Extracted Genetic Variants

Gene:FAM50A
Variant:p.E198V

FAM50A

25 papers

RefSeq Summary

This gene belongs to the FAM50 family. The encoded protein is highly conserved in length and sequence across different species. It is a basic protein containing a nuclear localization signal, and may ...

Pfam Domains

XAP5aa 197–338UCSCXAP5, circadian clock regulator C-terminal domain

Gene Aliases

HGNC Name

family with sequence similarity 50 member A

HGNC Alias Symbols

DXS9928E; XAP5; HXC-26; 9F

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004699.4
p.E198V
c.593A>T
Surrounding Variants
1 paper
NM_004699.4
p.W206G
c.616T>G
1 paper
NM_004699.4
p.D207N
c.619G>A
1 paper
NM_004699.4
p.R172H
c.515G>A
3 papers
NM_004699.4
p.E254G
c.761A>G
3 papers
NM_004699.4
p.D255N
c.763G>A
3 papers
NM_004699.4
p.D255G
c.764A>G
1 paper
NM_004699.4
p.I258T
c.773T>C
1 paper
NM_004699.4
p.R273W
c.817C>T
1 paper
NM_004699.4
p.F280F
c.840C>T
1 paper
NM_004699.4
p.R289L
c.866G>T
1 paper
NM_004699.4
p.D293D
c.879C>T
1 paper
NM_004699.4
p.H317R
c.950A>G
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