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

3 papers

NM_003502.4

p.Q630*

c.1888C>T

Surrounding Variants

1 paper

NM_003502.4

p.N629_K631delFs

c.1887_1891del5

1 paper

NM_003502.4

p.E627K

c.1879G>A

2 papers

NM_003502.4

p.A626V

c.1877C>T

2 papers

NM_003502.4

p.W635*

c.1904G>A

2 papers

NM_003502.4

p.W635*

c.1905G>A

1 paper

NM_003502.4

p.I636V

c.1906A>G

3 papers

NM_003502.4

p.S623L

c.1868C>T

1 paper

NM_003502.4

p.S623*

c.1868C>A

1 paper

NM_003502.4

p.S623P

c.1867T>C

1 paper

NM_003502.4

p.S623fs

c.1867_1868fs

1 paper

NM_003502.4

p.I637V

c.1909A>G

2 papers

NM_003502.4

p.E638K

c.1912G>A