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

1 paper

NM_001367943.1

p.Q150_Y151Splc

c.451-1G>C

Surrounding Variants

1 paper

NM_001367943.1

p.Y151_L152insAA

c.451_455ins6

1 paper

NM_001367943.1

p.K155delFs

c.463delA

1 paper

NM_001367943.1

p.K155fs

c.463_464fs

1 paper

NM_001367943.1

p.K155*

c.463A>T

3 papers

NM_001367943.1

p.Q162*

c.484C>T

1 paper

NM_001367943.1

p.A163_G164insT

c.487_491ins3

1 paper

NM_001367943.1

p.G164R

c.490G>A

1 paper

NM_001367943.1

p.G164R

c.490G>C

1 paper

NM_001367943.1

p.G164_S165insT

c.490_494ins3

1 paper

NM_001367943.1

p.R169S

c.507A>T

1 paper

NM_001367943.1

p.L172F

c.514C>T

1 paper

NM_001367943.1

p.K173E

c.517A>G