Varaico: Literature-Extracted Genetic Variants

AEBP1

145 papers

RefSeq Summary

This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation....

Pfam Domains

F5_F8_type_Caa 399–537UCSCF5/8 type C domain

Peptidase_M14aa 570–896UCSCZinc carboxypeptidase

CarboxypepD_regaa 907–982UCSCCarboxypeptidase regulatory-like domain

Gene Aliases

HGNC Name

AE binding protein 1

HGNC Alias Symbol

ACLP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001129.5

p.E352del1

c.1054_1055delGAG

Surrounding Variants

1 paper

NM_001129.5

p.K350_E351del2

c.1048_1052del6

1 paper

NM_001129.5

p.P342fs

c.1024_1025fs

1 paper

NM_001129.5

p.P342delFs

c.1026delC

1 paper

NM_001129.5

p.P367P

c.1101C>T

1 paper

NM_001129.5

p.K340Splc

c.1018+1G>C

1 paper

NM_001129.5

p.L339_K340del1

c.1016_1018delTGA

2 papers

NM_001129.5

p.E338*

c.1012G>T

2 papers

NM_001129.5

p.T378delFs

c.1132_1133delAC

1 paper

NM_001129.5

p.T378M

c.1133C>T

1 paper

NM_001129.5

p.S392L

c.1175C>T

1 paper

NM_001129.5

p.I400L

c.1198A>C

2 papers

NM_001129.5

p.R407H

c.1220G>A