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.A643delFs

c.1927delC

Surrounding Variants

1 paper

NM_004655.4

p.A643fs

c.1927_1928fs

2 papers

NM_004655.4

p.A643fs

c.1927_1928fs

1 paper

NM_004655.4

p.K642fs

c.1924_1925fs

1 paper

NM_004655.4

p.K642_A643insFs

c.1926_1927insA

2 papers

NM_004655.4

p.K642delFs

c.1925delT

1 paper

NM_004655.4

p.Y644Y

c.1932C>T

1 paper

NM_004655.4

p.K642E

c.1924A>G

1 paper

NM_004655.4

p.P645L

c.1934C>T

1 paper

NM_004655.4

p.S639N

c.1916G>A

1 paper

NM_004655.4

p.S648A

c.1942T>G

1 paper

NM_004655.4

p.S648P

c.1942T>C

2 papers

NM_004655.4

p.A643_E647delFs

c.1928_1941del14