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

3 papers

NM_030756.5

p.P477T

c.1429C>A

NM_001367943.1

p.P500T

c.1498C>A

Surrounding Variants

1 paper

NM_001367943.1

p.P500S

c.1498C>T

1 paper

NM_001367943.1

p.P499S

c.1495C>T

1 paper

NM_001367943.1

p.S502P

c.1504T>C

1 paper

NM_001367943.1

p.L497F

c.1489C>T

1 paper

NM_001367943.1

p.C496*

c.1488C>A

2 papers

NM_001367943.1

p.C496R

c.1486T>C

1 paper

NM_001198530.2

p.A407G

c.1220C>G

1 paper

NM_001367943.1

p.P512delFs

c.1536delC

1 paper

NM_001146285.2

p.P471delins

c.1411_1412delinsTT

1 paper

NM_001146285.2

p.P471Fs

c.1412delinsTTFs

1 paper

NM_001146285.2

p.P471_S479delFs

c.1413_1435del23

4 papers

NM_001367943.1

p.R488C

c.1462C>T