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.L500F

c.1498C>T

Surrounding Variants

1 paper

NM_004655.4

p.S493_L499insFs

c.1479_1497dup19

2 papers

NM_004655.4

p.L500fs

c.1498_1499fs

1 paper

NM_004655.4

p.G501ins2

c.1502_1503ins6

1 paper

NM_004655.4

p.G501ins2

c.1502_1503ins6

1 paper

NM_004655.4

p.P498L

c.1493C>T

1 paper

NM_004655.4

p.P498R

c.1493C>G

1 paper

NM_004655.4

p.C497S

c.1490G>C

1 paper

NM_004655.4

p.C497S

c.1489T>A

1 paper

NM_004655.4

p.A496S

c.1486G>T

1 paper

NM_004655.4

p.A496T

c.1486G>A

2 papers

NM_004655.4

p.G495G

c.1485C>T

1 paper

NM_004655.4

p.G495V

c.1484G>T