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

2 papers

NM_001367943.1

p.Q192R

c.575A>G

Surrounding Variants

1 paper

NM_001367943.1

p.Q192*

c.574C>T

1 paper

NM_001367943.1

p.Q192H

c.576G>T

1 paper

NM_001367943.1

p.V191V

c.573G>C

1 paper

NM_001198530.2

p.H136R

c.407A>G

1 paper

NM_001367943.1

p.P194S

c.580C>T

1 paper

NM_001367943.1

p.P194H

c.581C>A

1 paper

NM_001367943.1

p.P189P

c.567A>G

1 paper

NM_001367943.1

p.H195N

c.583C>A

1 paper

NM_001367943.1

p.P189L

c.566C>T

1 paper

NM_001367943.1

p.H196Y

c.586C>T

1 paper

NM_001367943.1

p.V188L

c.562G>C

1 paper

NM_001367943.1

p.V188L

c.562G>T