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

2 papers

NM_004655.4

p.Y549*

c.1647T>A

Surrounding Variants

2 papers

NM_004655.4

p.Y549*

c.1647T>G

1 paper

NM_004655.4

p.Y550D

c.1648T>G

2 papers

NM_004655.4

p.R538_E548delFs

c.1614_1642del29

1 paper

NM_004655.4

p.C551Y

c.1652G>A

2 papers

NM_004655.4

p.G546V

c.1637G>T

2 papers

NM_004655.4

p.G546D

c.1637G>A

1 paper

NM_004655.4

p.G545G

c.1635G>A

2 papers

NM_004655.4

p.G545R

c.1633G>C

3 papers

NM_004655.4

p.G545R

c.1633G>A

1 paper

NM_004655.4

p.P544L

c.1631C>T

1 paper

NM_004655.4

p.C555*

c.1665C>A

1 paper

NM_004655.4

p.C551_C555del0

c.1653_1664del12