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.F2256S

c.6767T>C

Surrounding Variants

1 paper

NM_005883.3

p.P2257S

c.6769C>T

1 paper

NM_005883.3

p.M2280T

c.6839T>C

1 paper

NM_005883.3

p.A2283G

c.6848C>G

1 paper

NM_005883.3

p.A2284G

c.6851C>G

1 paper

NM_005883.3

p.A2289T

c.6865G>A

1 paper

NM_005883.3

p.G2220D

c.6659G>A

1 paper

NM_005883.3

p.A2217fs

c.6649_6650fs

3 papers

NM_005883.3

p.A2217fs

c.6649_6650fs

1 paper

NM_005883.3

p.P2214S

c.6640C>T

1 paper

NM_005883.3

p.P2215delFs

c.6645delC

1 paper

NM_005883.3

p.E2213K

c.6637G>A

2 papers

NM_005883.3

p.P2207L

c.6620C>T