Varaico: Literature-Extracted Genetic Variants

Gene:EOMES
Variant:p.P164L

EOMES

149 papers

RefSeq Summary

This gene belongs to the TBR1 (T-box brain protein 1) sub-family of T-box genes that share the common DNA-binding T-box domain. The encoded protein is a transcription factor which is crucial for embry...

Pfam Domains

T-boxaa 269–456UCSCT-box
T-box_assocaa 463–684UCSCT-box transcription factor-associated

Gene Aliases

HGNC Name

eomesodermin

HGNC Alias Symbol

TBR2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001278182.2
p.P164L
c.491C>T
Surrounding Variants
1 paper
NM_001278182.2
p.L156R
c.467T>G
1 paper
NM_001278182.2
p.P175A
c.523C>G
3 papers
NM_001278182.2
p.L146F
c.436C>T
1 paper
NM_001278182.2
p.A183V
c.548C>T
1 paper
NM_001278182.2
p.Y145F
c.434A>T
1 paper
NM_001278182.2
p.R184C
c.550C>T
1 paper
NM_001278182.2
p.P193insFs
c.579dupC
1 paper
NM_001278182.2
p.G194fs
c.580_581fs
1 paper
NM_001278182.2
p.P197L
c.590C>T
2 papers
NM_001278182.2
p.A130del1
c.388_389delGGC
1 paper
NM_001278182.2
p.A198E
c.593C>A
1 paper
NM_001278182.2
p.A127del1
c.379_380delCGC
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