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.P38S

c.112C>T

Surrounding Variants

1 paper

NM_004655.4

p.Q37*

c.109C>T

1 paper

NM_004655.4

p.C36G

c.106T>G

1 paper

NM_004655.4

p.V40delFs

c.118delC

1 paper

NM_004655.4

p.V40fs

c.118_119fs

1 paper

NM_004655.4

p.E32fs

c.94_95fs

1 paper

NM_004655.4

p.Q44_V45insGQ

c.130_134ins6

1 paper

NM_004655.4

p.G31R

c.91G>C

1 paper

NM_004655.4

p.V45ins2

c.133_134ins6

1 paper

NM_004655.4

p.E30D

c.90A>T

1 paper

NM_004655.4

p.E30D

c.90A>C

1 paper

NM_004655.4

p.E30fs

c.88_89fs

1 paper

NM_004655.4

p.Q44_V45delFs

c.131_134del4