Varaico: Literature-Extracted Genetic Variants

TCF7L1

120 papers

RefSeq Summary

This gene encodes a member of the T cell factor/lymphoid enhancer factor family of transcription factors. These transcription factors are activated by beta catenin, mediate the Wnt signaling pathway a...

Pfam Domains

CTNNB1_bindingaa 25–250UCSCN-terminal CTNNB1 binding

HMG_boxaa 346–414UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

transcription factor 7 like 1

HGNC Previous Name

transcription factor 7-like 1 (T-cell specific, HMG-box)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_031283.3

p.P190L

c.569C>T

Surrounding Variants

1 paper

NM_031283.3

p.P204L

c.611C>T

1 paper

NM_031283.3

p.G205S

c.613G>A

1 paper

NM_031283.3

p.D216N

c.646G>A

2 papers

NM_031283.3

p.D216Y

c.646G>T

1 paper

NM_031283.3

p.P217_K218delFs

c.649_652del4

1 paper

NM_031283.3

p.I221V

c.661A>G

1 paper

NM_031283.3

p.R223_P224delins

c.667_670delinsG

1 paper

NM_031283.3

p.R223Q

c.668G>A

1 paper

NM_031283.3

p.P227L

c.680C>T

1 paper

NM_031283.3

p.E229K

c.685G>A

1 paper

NM_031283.3

p.P235L

c.704C>T

2 papers

NM_031283.3

p.L236P

c.707T>C