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.E44G

c.131A>G

Surrounding Variants

1 paper

NM_031283.3

p.E44K

c.130G>A

1 paper

NM_031283.3

p.G46C

c.136G>T

1 paper

NM_031283.3

p.P40_Q42del3

c.118_125del9

1 paper

NM_031283.3

p.L38M

c.112C>A

1 paper

NM_031283.3

p.A58T

c.172G>A

1 paper

NM_031283.3

p.E64Q

c.190G>C

1 paper

NM_031283.3

p.E64V

c.191A>T

4 papers

NM_031283.3

p.S22_G24del3

c.64_71del9

1 paper

NM_031283.3

p.G16R

c.46G>C

1 paper

NM_031283.3

p.S15fs

c.43_44fs

2 papers

NM_031283.3

p.G12D

c.35G>A

6 papers

NM_031283.3

p.G8del1

c.22_23delGGC