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.S475L

c.1424C>T

Surrounding Variants

9 papers

NM_004655.4

p.H474del1

c.1420_1421delATG

3 papers

NM_004655.4

p.H473_H474del2

c.1417_1421del6

9 papers

NM_004655.4

p.H473_H474ins0

c.1419_1421dupCCA

1 paper

NM_004655.4

p.H474H

c.1422T>C

10 papers

NM_004655.4

p.H473_H474del1

c.1419_1421delTGG

1 paper

NM_004655.4

p.H474ins1

c.1421_1422insCCA

1 paper

NM_004655.4

p.S479F

c.1436C>T

1 paper

NM_004655.4

p.H471D

c.1411C>G

1 paper

NM_004655.4

p.H470H

c.1410C>T

1 paper

NM_004655.4

p.P482L

c.1445C>T

1 paper

NM_004655.4

p.P467fs

c.1399_1400fs

1 paper

NM_004655.4

p.P467delFs

c.1400delG