Varaico: Literature-Extracted Genetic Variants

Gene:TGIF1
Variant:p.E217K

TGIF1

102 papers

RefSeq Summary

The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. Th...

Pfam Domains

Homeobox_KNaa 182–221UCSCHomeobox KN domain
Homeobox_KNaa 182–221UCSCHomeobox KN domain

Gene Aliases

HGNC Name

TGFB induced factor homeobox 1

HGNC Previous Symbol

HPE4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003244.4
p.E217K
c.649G>A
Surrounding Variants
1 paper
NM_003244.4
p.F233S
c.698T>C
1 paper
NM_003244.4
p.P237R
c.710C>G
1 paper
NM_003244.4
p.G195R
c.583G>A
1 paper
NM_003244.4
p.G195ins1
c.583_584insTTT
1 paper
NM_003244.4
p.P240ins0
c.718_720dupCCA
1 paper
NM_003244.4
p.P240del1
c.718_720delCCA
1 paper
NM_003244.4
p.P240insFs
c.720dupA
1 paper
NM_003244.4
p.V192V
c.576C>T
1 paper
NM_170695.5
p.D222N
c.664G>A
2 papers
NM_003244.4
p.S191A
c.571T>G
1 paper
NM_003244.4
p.Q190fs
c.568_569fs
1 paper
NM_003244.4
p.L188L
c.564C>G
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