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.D194delFs

c.581delT

Surrounding Variants

1 paper

NM_004655.4

p.I195T

c.584T>C

1 paper

NM_004655.4

p.D194H

c.580G>C

1 paper

NM_004655.4

p.I195M

c.585A>G

1 paper

NM_004655.4

p.S193F

c.578C>T

2 papers

NM_004655.4

p.S193Y

c.578C>A

1 paper

NM_004655.4

p.Y187_T192del0

c.559_576del18

1 paper

NM_004655.4

p.L191delFs

c.573delC

1 paper

NM_004655.4

p.N185_L191delFs

c.555_573del19

1 paper

NM_004655.4

p.L191fs

c.571_572fs

1 paper

NM_004655.4

p.L197L

c.591C>G

1 paper

NM_004655.4

p.E198*

c.592G>T

5 papers

NM_004655.4

p.E198Q

c.592G>C