Varaico: Literature-Extracted Genetic Variants

AXIN2

682 papers

RefSeq Summary

The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil....

Pfam Domains

AXIN1_TNKS_BDaa 9–75UCSCAxin-1 tankyrase binding domain

RGSaa 81–199UCSCRegulator of G protein signaling domain

Axin_b-cat_bindaa 433–469UCSCAxin beta-catenin binding motif

DIXaa 763–839UCSCDIX domain

Gene Aliases

HGNC Name

axin 2

HGNC Alias Symbols

MGC126582; DKFZp781B0869

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004655.4

p.S53C

c.158C>G

Surrounding Variants

2 papers

NM_004655.4

p.S52F

c.155C>T

2 papers

NM_004655.4

p.V51I

c.151G>A

58 papers

NM_004655.4

p.P50S

c.148C>T

1 paper

NM_004655.4

p.P50_V51insC

c.148_152ins3

1 paper

NM_004655.4

p.P48_M49insFs

c.144_145ins5

2 papers

NM_004655.4

p.T46N

c.137C>A

1 paper

NM_004655.4

p.Q44_V45delFs

c.131_134del4

1 paper

NM_004655.4

p.V45ins2

c.133_134ins6

1 paper

NM_004655.4

p.Q44_V45insGQ

c.130_134ins6

1 paper

NM_004655.4

p.G63delFs

c.189delC

1 paper

NM_004655.4

p.P65Q

c.194C>A

1 paper

NM_004655.4

p.V40fs

c.118_119fs