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.L2167M

c.6499C>A

Surrounding Variants

1 paper

NM_005883.3

p.A2164D

c.6491C>A

1 paper

NM_005883.3

p.T2173T

c.6519G>A

1 paper

NM_005883.3

p.A2179A

c.6537C>G

1 paper

NM_005883.3

p.V2154M

c.6460G>A

1 paper

NM_005883.3

p.T2144M

c.6431C>T

2 papers

NM_005883.3

p.E2195G

c.6584A>G

1 paper

NM_005883.3

p.P2137L

c.6410C>T

2 papers

NM_005883.3

p.P2207L

c.6620C>T

1 paper

NM_005883.3

p.E2213K

c.6637G>A

1 paper

NM_005883.3

p.P2215delFs

c.6645delC

1 paper

NM_005883.3

p.P2214S

c.6640C>T

1 paper

NM_005883.3

p.A2217fs

c.6649_6650fs