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.A594G

c.1781C>G

Surrounding Variants

2 papers

NM_004655.4

p.A594T

c.1780G>A

1 paper

NM_004655.4

p.P593S

c.1777C>T

1 paper

NM_004655.4

p.E596K

c.1786G>A

1 paper

NM_004655.4

p.A599S

c.1795G>T

1 paper

NM_004655.4

p.G589fs

c.1765_1766fs

1 paper

NM_004655.4

p.G601R

c.1801G>C

1 paper

NM_004655.4

p.P600delFs

c.1800delG

1 paper

NM_004655.4

p.G601fs

c.1801_1802fs

1 paper

NM_004655.4

p.E587K

c.1759G>A

1 paper

NM_004655.4

p.T586fs

c.1756_1757fs

1 paper

NM_004655.4

p.T586delFs

c.1757delG

1 paper

NM_004655.4

p.T586R

c.1757C>G