Varaico: Literature-Extracted Genetic Variants

TCF7L2

535 papers

RefSeq Summary

This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Gene...

Pfam Domains

CTNNB1_bindingaa 1–76UCSCN-terminal CTNNB1 binding

CTNNB1_bindingaa 5–236UCSCN-terminal CTNNB1 binding

HMG_boxaa 327–395UCSCHMG (high mobility group) box

ZNF704_Caa 423–452UCSCZinc finger protein 704 C-terminal domain

Gene Aliases

HGNC Name

transcription factor 7 like 2

HGNC Alias Symbol

TCF-4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001367943.1

p.P226L

c.677C>T

Surrounding Variants

1 paper

NM_001367943.1

p.P226P

c.678C>T

1 paper

NM_001367943.1

p.T228I

c.683C>T

1 paper

NM_001367943.1

p.V224I

c.670G>A

1 paper

NM_001367943.1

p.D223G

c.668A>G

2 papers

NM_001367943.1

p.G229Splc

c.685+1G>A

1 paper

NM_001367943.1

p.P221L

c.662C>T

1 paper

NM_001367943.1

p.P221T

c.661C>A

1 paper

NM_001367943.1

p.P221S

c.661C>T

1 paper

NM_001367943.1

p.P221fs

c.661_662fs

1 paper

NM_030756.5

p.L197L

c.591A>G

1 paper

NM_001367943.1

p.L220insFs

c.660dupA

1 paper

NM_001367943.1

p.H219R

c.656A>G