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.L580F

c.1740G>T

Surrounding Variants

1 paper

NM_001367943.1

p.A579A

c.1737T>C

1 paper

NM_001367943.1

p.A579S

c.1735G>T

1 paper

NM_001367943.1

p.P576L

c.1727C>T

1 paper

NM_001367943.1

p.S588L

c.1763C>T

1 paper

NM_001367943.1

p.L573fs

c.1717_1718fs

2 papers

NM_001367943.1

p.A572V

c.1715C>T

1 paper

NM_001367943.1

p.A572insFs

c.1714_1715insCG

1 paper

NM_001367943.1

p.P592_S593insFs

c.1776_1777ins5

1 paper

NM_001367943.1

p.S593L

c.1778C>T

1 paper

NM_001367943.1

p.S595C

c.1784C>G

1 paper

NM_001367943.1

p.S565Y

c.1694C>A

1 paper

NM_001367943.1

p.H562D

c.1684C>G