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.K103R

c.308A>G

Surrounding Variants

1 paper

NM_004655.4

p.C104Y

c.311G>A

1 paper

NM_004655.4

p.C104insFs

c.311dupG

1 paper

NM_004655.4

p.C104fs

c.310_311fs

7 papers

NM_004655.4

p.V105G

c.314T>G

1 paper

NM_004655.4

p.R101M

c.302G>T

1 paper

NM_004655.4

p.E100K

c.298G>A

2 papers

NM_004655.4

p.L99R

c.296T>G

1 paper

NM_004655.4

p.F98S

c.293T>C

1 paper

NM_004655.4

p.T97S

c.290C>G

1 paper

NM_004655.4

p.D109E

c.327C>G

1 paper

NM_004655.4

p.D109E

c.327C>A

1 paper

NM_004655.4

p.T97S

c.289A>T