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

1 paper

NM_001129.5

p.E958K

c.2872G>A

Surrounding Variants

1 paper

NM_001129.5

p.A955T

c.2863G>A

1 paper

NM_001129.5

p.S963N

c.2888G>A

1 paper

NM_001129.5

p.P948L

c.2843C>T

1 paper

NM_001129.5

p.A975delFs

c.2923delG

1 paper

NM_001129.5

p.A975delFs

c.2925delC

1 paper

NM_001129.5

p.A975fs

c.2923_2924fs

1 paper

NM_001129.5

p.Q977K

c.2929C>A

1 paper

NM_001129.5

p.M996T

c.2987T>C

1 paper

NM_001129.5

p.N997_G998ins3

c.2991_2992ins9

1 paper

NM_001129.5

p.T1012fs

c.3034_3035fs

1 paper

NM_001129.5

p.Q1015_Q1019del0

c.3043_3057del15

1 paper

NM_001129.5

p.R1016_L1018del3

c.3046_3053del9