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.T527P

c.1579A>C

Surrounding Variants

1 paper

NM_004655.4

p.K526R

c.1577A>G

1 paper

NM_004655.4

p.K528E

c.1582A>G

3 papers

NM_004655.4

p.P525A

c.1573C>G

1 paper

NM_004655.4

p.A523V

c.1568C>T

1 paper

NM_004655.4

p.I531I

c.1593C>T

1 paper

NM_004655.4

p.E532*

c.1594G>T

1 paper

NM_004655.4

p.E532K

c.1594G>A

1 paper

NM_004655.4

p.A533V

c.1598C>T

2 papers

NM_004655.4

p.I519M

c.1557C>G

1 paper

NM_004655.4

p.I519fs

c.1555_1556fs

2 papers

NM_004655.4

p.Y518C

c.1553A>G

1 paper

NM_004655.4

p.Y518insFs

c.1553_1554ins10