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.E209K

c.625G>A

Surrounding Variants

1 paper

NM_001367943.1

p.F211V

c.631T>G

1 paper

NM_030756.5

p.T189insFs

c.565_566dupAC

2 papers

NM_001367943.1

p.P213T

c.637C>A

1 paper

NM_030756.5

p.P190R

c.569C>G

1 paper

NM_001367943.1

p.L203P

c.608T>C

1 paper

NM_001367943.1

p.P216A

c.646C>G

1 paper

NM_001367943.1

p.P216S

c.646C>T

3 papers

NM_001367943.1

p.T201M

c.602C>T

1 paper

NM_001367943.1

p.P217S

c.649C>T

1 paper

NM_001367943.1

p.L200fs

c.598_599fs

1 paper

NM_001367943.1

p.P199H

c.596C>A

2 papers

NM_001367943.1

p.P199L

c.596C>T