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.I183V

c.547A>G

Surrounding Variants

1 paper

NM_001367943.1

p.I183I

c.549T>C

1 paper

NM_001367943.1

p.V184L

c.550G>C

1 paper

NM_001367943.1

p.P180R

c.539C>G

1 paper

NM_001367943.1

p.P180L

c.539C>T

1 paper

NM_001367943.1

p.S179*

c.536C>A

1 paper

NM_001367943.1

p.S177_P178insFs

c.531_532insG

1 paper

NM_001367943.1

p.R176W

c.526C>T

1 paper

NM_001367943.1

p.A175V

c.524C>T

1 paper

NM_001367943.1

p.A175T

c.523G>A

2 papers

NM_001367943.1

p.D174V

c.521A>T

1 paper

NM_001367943.1

p.K173M

c.518A>T

1 paper

NM_001367943.1

p.K173E

c.517A>G