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.A1383delFs

c.4147_4148delGC

Surrounding Variants

1 paper

NM_005883.3

p.N1399K

c.4197C>A

1 paper

NM_005883.3

p.N1399K

c.4197C>G

1 paper

NM_005883.3

p.A1353S

c.4057G>T

1 paper

NM_005883.3

p.R1416_G1420delFs

c.4247_4259del13

1 paper

NM_005883.3

p.P1419fs

c.4255_4256fs

3 papers

NM_005883.3

p.P1419fs

c.4255_4256fs

1 paper

NM_005883.3

p.C1346insFs

c.4036_4037insA

1 paper

NM_005883.3

p.A1423_R1427delFs

c.4267_4280del14

1 paper

NM_005883.3

p.G1430S

c.4288G>A

1 paper

NM_005883.3

p.G1329S

c.3985G>A

1 paper

NM_005883.3

p.H1441Y

c.4321C>T

1 paper

NM_005883.3

p.G1324V

c.3971G>T