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.G571Splc

c.1712+19G>A

Surrounding Variants

8 papers

NM_004655.4

p.G571Splc

c.1712+19G>T

1 paper

NM_004655.4

p.G571Splc

c.1712+9C>T

1 paper

NM_004655.4

p.G571Splc

c.1712+9C>A

1 paper

NM_004655.4

p.F570V

c.1708T>G

1 paper

NM_004655.4

p.S559_M565del0

c.1675_1695del21

1 paper

NM_004655.4

p.M565L

c.1693A>T

1 paper

NM_004655.4

p.G571Splc

c.1712+57A>G

1 paper

NM_004655.4

p.K554_E563del0

c.1662_1688del27

1 paper

NM_004655.4

p.S557_P562del6

c.1669_1685del18

1 paper

NM_004655.4

p.G571Splc

c.1712+63A>C

1 paper

NM_004655.4

p.S557_P562del0

c.1671_1685del15

10 papers

NM_004655.4

p.P562L

c.1685C>T