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.Q412*

c.1234C>T

Surrounding Variants

1 paper

NM_001367943.1

p.L413V

c.1237C>G

1 paper

NM_001367943.1

p.H410P

c.1229A>C

1 paper

NM_001367943.1

p.H410Y

c.1228C>T

1 paper

NM_001367943.1

p.Y414insFs

c.1242dupC

1 paper

NM_001367943.1

p.P415T

c.1243C>A

1 paper

NM_001367943.1

p.Q408Q

c.1224G>A

1 paper

NM_001367943.1

p.G416S

c.1246G>A

1 paper

NM_001367943.1

p.G416V

c.1247G>T

1 paper

NM_001367943.1

p.R407Q

c.1220G>A

2 papers

NM_001198528.2

p.R384*

c.1150C>T

NM_001367943.1

p.R407*

c.1219C>T

2 papers

NM_001367943.1

p.W417*

c.1250G>A

2 papers

NM_001367943.1

p.W417L

c.1250G>T

NM_001198528.2

p.W394L

c.1181G>T