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.E198*

c.592G>T

Surrounding Variants

5 papers

NM_004655.4

p.E198Q

c.592G>C

1 paper

NM_004655.4

p.E198K

c.592G>A

1 paper

NM_004655.4

p.L197L

c.591C>G

1 paper

NM_004655.4

p.E198E

c.594A>G

2 papers

NM_004655.4

p.V200M

c.598G>A

1 paper

NM_004655.4

p.I195M

c.585A>G

1 paper

NM_004655.4

p.I195T

c.584T>C

1 paper

NM_004655.4

p.V200V

c.600G>A

1 paper

NM_004655.4

p.D194delFs

c.581delT

1 paper

NM_004655.4

p.R201S

c.603G>T

1 paper

NM_004655.4

p.R201S

c.603G>C

1 paper

NM_004655.4

p.D194H

c.580G>C