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.Y423_G424Splc

c.1269+8G>A

Surrounding Variants

1 paper

NM_030756.5

p.Y400_G401Splc

c.1200+1G>A

2 papers

NM_001367943.1

p.Y423*

c.1269T>A

NM_001198528.2

p.Y400*

c.1200T>A

2 papers

NM_001367943.1

p.Y423*

c.1269T>G

NM_001198528.2

p.Y400*

c.1200T>G

5 papers

NM_001367943.1

p.Y423C

c.1268A>G

NM_001198528.2

p.Y400C

c.1199A>G

2 papers

NM_001367943.1

p.Y423H

c.1267T>C

NM_001198528.2

p.Y400H

c.1198T>C

2 papers

NM_001367943.1

p.R420P

c.1259G>C

4 papers

NM_001367943.1

p.R420W

c.1258C>T

1 paper

NM_001367943.1

p.Y423_G424Splc

c.1269+28G>A

2 papers

NM_030756.5

p.A396V

c.1187C>T

NM_001367943.1

p.A419V

c.1256C>T

1 paper

NM_001367943.1

p.S418F

c.1253C>T

1 paper

NM_001367943.1

p.W417*

c.1251G>A

2 papers

NM_001367943.1

p.W417*

c.1250G>A