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.R1462R

c.4384A>C

NM_001351273.1

p.R1461R

c.4381A>C

Surrounding Variants

1 paper

NM_005883.3

p.N1461H

c.4381A>C

2 papers

NM_005883.3

p.P1468L

c.4403C>T

1 paper

NM_005883.3

p.R1450C

c.4348C>T

1 paper

NM_005883.3

p.R1442R

c.4326G>A

1 paper

NM_005883.3

p.R1442W

c.4324C>T

1 paper

NM_005883.3

p.H1441Y

c.4321C>T

1 paper

NM_005883.3

p.L1493F

c.4477C>T

1 paper

NM_005883.3

p.G1430S

c.4288G>A

1 paper

NM_005883.3

p.A1423_R1427delFs

c.4267_4280del14

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.R1416_G1420delFs

c.4247_4259del13