Varaico: Literature-Extracted Genetic Variants

APC2

218 papers

RefSeq Summary

This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the as...

Pfam Domains

APC_N_CCaa 6–57UCSCCoiled-coil N-terminus of APC, dimerisation domain

Suppressor_APCaa 124–205UCSCAdenomatous polyposis coli tumour suppressor protein

APC_repaa 357–431UCSCAdenomatous polyposis coli (APC) repeat

Armaa 614–654UCSCArmadillo/beta-catenin-like repeat

Arm_APC_u3aa 697–959UCSCArmadillo-associated region on APC

APC_raa 1054–1076UCSCAPC repeat

Gene Aliases

HGNC Name

APC regulator of Wnt signaling pathway 2

HGNC Alias Symbol

APCL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005883.3

p.A229A

c.687G>A

Surrounding Variants

2 papers

NM_005883.3

p.I222T

c.665T>C

1 paper

NM_005883.3

p.A216T

c.646G>A

1 paper

NM_005883.3

p.S246T

c.736T>A

3 papers

NM_005883.3

p.S246*

c.737C>A

1 paper

NM_005883.3

p.V249V

c.747G>T

1 paper

NM_005883.3

p.T265I

c.794C>T

2 papers

NM_005883.3

p.P266T

c.796C>A

1 paper

NM_005883.3

p.Q213R

c.638A>G

1 paper

NM_005883.3

p.A212V

c.635C>T

1 paper

NM_005883.3

p.F202Y

c.605T>A

1 paper

NM_005883.3

p.E190K

c.568G>A

1 paper

NM_005883.3

p.D181delFs

c.543delC