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.D441N

c.1321G>A

Surrounding Variants

1 paper

NM_004655.4

p.D441_H442ins5

c.1321_1325ins15

1 paper

NM_004655.4

p.D440N

c.1318G>A

1 paper

NM_004655.4

p.L439L

c.1315C>T

1 paper

NM_004655.4

p.P435L

c.1304C>T

1 paper

NM_004655.4

p.D434Y

c.1300G>T

1 paper

NM_004655.4

p.E433delFs

c.1297delC

1 paper

NM_004655.4

p.E433Q

c.1297G>C

1 paper

NM_004655.4

p.E433fs

c.1297_1298fs

1 paper

NM_004655.4

p.P450S

c.1348C>T

1 paper

NM_004655.4

p.P450fs

c.1348_1349fs

1 paper

NM_004655.4

p.P450delFs

c.1349delG

1 paper

NM_004655.4

p.G451Fs

c.1352delinsACFs