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

2 papers

NM_003502.4

p.K379R

c.1136A>G

Surrounding Variants

1 paper

NM_003502.4

p.E380*

c.1138G>T

1 paper

NM_003502.4

p.E380K

c.1138G>A

1 paper

NM_003502.4

p.P378S

c.1132C>T

1 paper

NM_003502.4

p.V377fs

c.1129_1130fs

6 papers

NM_003502.4

p.R382C

c.1144C>T

3 papers

NM_003502.4

p.R376Q

c.1127G>A

1 paper

NM_003502.4

p.R382H

c.1145G>A

1 paper

NM_003502.4

p.R382R

c.1146C>T

3 papers

NM_003502.4

p.V383M

c.1147G>A

2 papers

NM_003502.4

p.V383A

c.1148T>C

1 paper

NM_003502.4

p.Y375C

c.1124A>G

2 papers

NM_003502.4

p.Y375H

c.1123T>C