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.Y187D

c.559T>G

Surrounding Variants

1 paper

NM_004655.4

p.Y187H

c.559T>C

1 paper

NM_004655.4

p.Y187delFs

c.559delA

1 paper

NM_004655.4

p.A186_Y187delFs

c.556_559del4

1 paper

NM_004655.4

p.N185delFs

c.554delT

2 papers

NM_004655.4

p.Q188P

c.563A>C

1 paper

NM_004655.4

p.A186_Q188del0

c.557_562del6

2 papers

NM_004655.4

p.Q188H

c.564G>T

2 papers

NM_004655.4

p.Q188H

c.564G>C

1 paper

NM_004655.4

p.N185fs

c.553_554fs

1 paper

NM_004655.4

p.M189L

c.565A>T

1 paper

NM_004655.4

p.M189L

c.565A>C

1 paper

NM_004655.4

p.Y187_M189delFs

c.559_565del7