Varaico: Literature-Extracted Genetic Variants

Gene:EOMES
Variant:p.P100T

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.P100T
c.298C>A
Surrounding Variants
2 papers
NM_001278182.2
p.D102E
c.306C>G
2 papers
NM_001278182.2
p.D102E
c.306C>A
1 paper
NM_001278182.2
p.V95delFs
c.284delA
1 paper
NM_001278182.2
p.S107P
c.319T>C
2 papers
NM_001278182.2
p.S91R
c.273C>G
2 papers
NM_001278182.2
p.S91R
c.273C>A
1 paper
NM_001278182.2
p.S91G
c.271A>G
2 papers
NM_001278182.2
p.S91R
c.271A>C
1 paper
NM_001278182.2
p.A88V
c.263C>T
1 paper
NM_001278182.2
p.E112Q
c.334G>C
2 papers
NM_001278182.2
p.A120G
c.359C>G
1 paper
NM_001278182.2
p.A120ins2
c.358_359ins6
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