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

6 papers

NM_001367943.1

p.K485delFs

c.1454delA

Surrounding Variants

2 papers

NM_001367943.1

p.K485insFs

c.1454dupA

1 paper

NM_001198530.2

p.E384fs

c.1150_1151fs

1 paper

NM_001367943.1

p.R482fs

c.1444_1445fs

1 paper

NM_001367943.1

p.R482G

c.1444A>G

1 paper

NM_030756.5

p.K460E

c.1378A>G

6 papers

NM_001367943.1

p.K485fs

c.1453_1454fs

3 papers

NM_001367943.1

p.K485fs

c.1453_1454fs

1 paper

NM_001367943.1

p.C486fs

c.1456_1457fs

1 paper

NM_001367943.1

p.C486fs

c.1456_1457fs

1 paper

NM_001367943.1

p.C486Y

c.1457G>A

1 paper

NM_001367943.1

p.V487A

c.1460T>C

4 papers

NM_001367943.1

p.R488C

c.1462C>T