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

1–12 of 588 variants

7 papers

NM_001367943.1

p.K462delFs

c.1385delA

7 papers

NM_001367943.1

p.K462fs

c.1384_1385fs

6 papers

NM_001367943.1

p.K485delFs

c.1454delA

6 papers

NM_001367943.1

p.K485fs

c.1453_1454fs

6 papers

NM_001367943.1

p.P512R

c.1535C>G

5 papers

NM_001367943.1

p.G13D

c.38G>A

5 papers

NM_001367943.1

p.R465*

c.1393C>T

4 papers

NM_001367943.1

p.I183V

c.547A>G

4 papers

NM_001367943.1

p.P226L

c.677C>T

4 papers

NM_001367943.1

p.R420W

c.1258C>T

4 papers

NM_001367943.1

p.Y423C

c.1268A>G

4 papers

NM_001367943.1

p.R488C

c.1462C>T