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.L41_V44del4

c.121_131del12

Surrounding Variants

1 paper

NM_001367943.1

p.E38A

c.113A>C

1 paper

NM_001367943.1

p.D43G

c.128A>G

1 paper

NM_001367943.1

p.V44I

c.130G>A

1 paper

NM_001367943.1

p.A37S

c.109G>T

1 paper

NM_001367943.1

p.V44A

c.131T>C

1 paper

NM_001367943.1

p.K45_L48del4

c.133_143del12

1 paper

NM_001367943.1

p.S36S

c.108G>T

1 paper

NM_001367943.1

p.K45*

c.133A>T

1 paper

NM_001367943.1

p.S36*

c.107C>A

1 paper

NM_001367943.1

p.S46*

c.137C>A

1 paper

NM_001367943.1

p.S46W

c.137C>G

1 paper

NM_001367943.1

p.S46L

c.137C>T