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.E462fs

c.1384_1385fs

Surrounding Variants

1 paper

NM_031283.3

p.E462K

c.1384G>A

1 paper

NM_031283.3

p.P461insFs

c.1383dupC

1 paper

NM_031283.3

p.G473E

c.1418G>A

1 paper

NM_031283.3

p.P479S

c.1435C>T

1 paper

NM_031283.3

p.P479L

c.1436C>T

1 paper

NM_031283.3

p.P502_L503insT

c.1504_1508ins3

1 paper

NM_031283.3

p.P502S

c.1504C>T

1 paper

NM_031283.3

p.L503I

c.1507C>A

1 paper

NM_031283.3

p.S504P

c.1510T>C

2 papers

NM_031283.3

p.A516S

c.1546G>T

1 paper

NM_031283.3

p.S519C

c.1556C>G

2 papers

NM_031283.3

p.A520G

c.1559C>G