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.R387_W388Splc

c.1162-1G>C

Surrounding Variants

1 paper

NM_001367943.1

p.R387_W388Splc

c.1162-2A>G

1 paper

NM_001367943.1

p.R387_W388Splc

c.1162-2A>T

1 paper

NM_001367943.1

p.W388*

c.1163G>A

1 paper

NM_001367943.1

p.W388*

c.1164G>A

1 paper

NM_001367943.1

p.H389P

c.1166A>C

1 paper

NM_001367943.1

p.S392C

c.1175C>G

1 paper

NM_001367943.1

p.S392F

c.1175C>T

1 paper

NM_001367943.1

p.E394*

c.1180G>T

1 paper

NM_001367943.1

p.Q396E

c.1186C>G

1 paper

NM_001367943.1

p.Q396R

c.1187A>G

1 paper

NM_001367943.1

p.Q396H

c.1188A>C

1 paper

NM_001367943.1

p.R387_W388Splc

c.1162-28T>C