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

Selected Variant

1 paper

NM_003502.4

p.F201L

c.603C>A

Surrounding Variants

1 paper

NM_003502.4

p.F201L

c.603C>G

1 paper

NM_003502.4

p.L202F

c.604C>T

2 papers

NM_003502.4

p.L202P

c.605T>C

1 paper

NM_003502.4

p.F201L

c.601T>C

1 paper

NM_003502.4

p.S200S

c.600C>T

1 paper

NM_003502.4

p.S200F

c.599C>T

1 paper

NM_003502.4

p.S200C

c.599C>G

1 paper

NM_003502.4

p.K203*

c.607A>T

4 papers

NM_003502.4

p.K203M

c.608A>T

1 paper

NM_003502.4

p.L202_K203delins

c.605_609delinsAAAAT

1 paper

NM_003502.4

p.P199L

c.596C>T

1 paper

NM_003502.4

p.P199S

c.595C>T