Varaico: Literature-Extracted Genetic Variants

AXIN1

546 papers

RefSeq Summary

This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polypos...

Pfam Domains

AXIN1_TNKS_BDaa 7–82UCSCAxin-1 tankyrase binding domain

RGSaa 88–210UCSCRegulator of G protein signaling domain

Axin_b-cat_bindaa 465–496UCSCAxin beta-catenin binding motif

DIXaa 782–858UCSCDIX domain

Gene Aliases

HGNC Name

axin 1

HGNC Alias Symbol

PPP1R49

Papers

RefSeq ID

Protein change

DNA change

1–12 of 971 variants

11 papers

NM_003502.4

p.D495E

c.1485C>G

11 papers

NM_003502.4

p.D495E

c.1485C>A

11 papers

NM_003502.4

p.A740T

c.2218G>A

10 papers

NM_003502.4

p.G650S

c.1948G>A

10 papers

NM_003502.4

p.R841Q

c.2522G>A

9 papers

NM_003502.4

p.R146*

c.436C>T

9 papers

NM_003502.4

p.S215L

c.644C>T

8 papers

NM_003502.4

p.R723*

c.2167C>T

7 papers

NM_003502.4

p.R22*

c.64C>T

7 papers

NM_003502.4

p.P278L

c.833C>T

7 papers

NM_003502.4

p.L396M

c.1186C>A

7 papers

NM_003502.4

p.G508fs

c.1522_1523fs