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.K556_H558del0

c.1667_1672del6

Surrounding Variants

1 paper

NM_004655.4

p.Y550_H558delFs

c.1648_1672del25

1 paper

NM_004655.4

p.C551_S557del0

c.1652_1669del18

1 paper

NM_004655.4

p.K556_S557del1

c.1668_1670delCTT

1 paper

NM_004655.4

p.S553_S557del0

c.1659_1670del12

1 paper

NM_004655.4

p.K560*

c.1678A>T

1 paper

NM_004655.4

p.S559del1

c.1675_1677delGGA

1 paper

NM_004655.4

p.K556_K560del0

c.1668_1679del12

1 paper

NM_004655.4

p.K556_A561del0

c.1667_1681del15

1 paper

NM_004655.4

p.C551_C555del0

c.1653_1664del12

1 paper

NM_004655.4

p.C555*

c.1665C>A

1 paper

NM_004655.4

p.K554_A561del0

c.1660_1683del24

10 papers

NM_004655.4

p.P562L

c.1685C>T