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

6 papers

NM_001367943.1

p.P512R

c.1535C>G

Surrounding Variants

1 paper

NM_001367943.1

p.P512H

c.1535C>A

1 paper

NM_001367943.1

p.P512L

c.1535C>T

1 paper

NM_001367943.1

p.S513T

c.1537T>A

1 paper

NM_001367943.1

p.S513fs

c.1537_1538fs

1 paper

NM_001146285.2

p.P471Fs

c.1412delinsTTFs

1 paper

NM_001146285.2

p.P471_S479delFs

c.1413_1435del23

1 paper

NM_001367943.1

p.S513S

c.1539C>T

1 paper

NM_001146285.2

p.P471delins

c.1411_1412delinsTT

1 paper

NM_001367943.1

p.P512delFs

c.1536delC

1 paper

NM_001146285.2

p.N475fs

c.1423_1424fs

1 paper

NM_001367943.1

p.N515T

c.1544A>C

1 paper

NM_001367943.1

p.L516Q

c.1547T>A