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

3 papers

NM_004655.4

p.R650C

c.1948C>T

Surrounding Variants

2 papers

NM_004655.4

p.S651L

c.1952C>T

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

1 paper

NM_004655.4

p.P645L

c.1934C>T

1 paper

NM_004655.4

p.E655K

c.1963G>A

1 paper

NM_004655.4

p.Y644Y

c.1932C>T

29 papers

NM_004655.4

p.R656*

c.1966C>T

1 paper

NM_004655.4

p.R656Q

c.1967G>A

1 paper

NM_004655.4

p.A643fs

c.1927_1928fs

1 paper

NM_004655.4

p.A643delFs

c.1927delC

2 papers

NM_004655.4

p.A643fs

c.1927_1928fs