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.P1220L

c.3659C>T

Surrounding Variants

2 papers

NM_005883.3

p.P1218L

c.3653C>T

1 paper

NM_005883.3

p.P1224fs

c.3670_3671fs

1 paper

NM_005883.3

p.S1235R

c.3703A>C

1 paper

NM_005883.3

p.S1235R

c.3705C>A

1 paper

NM_005883.3

p.S1235R

c.3705C>G

1 paper

NM_005883.3

p.Y1236N

c.3706T>A

1 paper

NM_005883.3

p.R1247Q

c.3740G>A

1 paper

NM_005883.3

p.V1265L

c.3793G>C

1 paper

NM_005883.3

p.V1265L

c.3793G>T

1 paper

NM_005883.3

p.S1175P

c.3523T>C

1 paper

NM_005883.3

p.P1174L

c.3521C>T

1 paper

NM_005883.3

p.L1168V

c.3502C>G