Varaico: Literature-Extracted Genetic Variants

Gene:EOMES
Variant:p.K378R

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.K378R
c.1133A>G
Surrounding Variants
1 paper
NM_001278182.2
p.K378_A380del3
c.1132_1139del9
1 paper
NM_001278182.2
p.K371R
c.1112A>G
1 paper
NM_001278182.2
p.G370R
c.1108G>C
1 paper
NM_001278182.2
p.G370R
c.1108G>A
2 papers
NM_001278182.2
p.T358_G359insGCG
c.1072_1076ins9
10 papers
NM_001278182.2
p.T358_G359ins6
c.1072_1076ins18
1 paper
NM_001278182.2
p.T358_G359ins9
c.1072_1076ins27
1 paper
NM_001278182.2
p.M387I
c.1161G>T
1 paper
NM_001278182.2
p.M387I
c.1161G>C
1 paper
NM_001278182.2
p.M387I
c.1161G>A
1 paper
NM_001278182.2
p.S392F
c.1175C>T
1 paper
NM_001278182.2
p.R399Q
c.1196G>A
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