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.R416W

c.1246C>T

Surrounding Variants

1 paper

NM_001129.5

p.M419I

c.1257G>A

1 paper

NM_001129.5

p.M419I

c.1257G>C

1 paper

NM_001129.5

p.M419I

c.1257G>T

1 paper

NM_001129.5

p.H408H

c.1224C>T

2 papers

NM_001129.5

p.R407H

c.1220G>A

1 paper

NM_001129.5

p.I400L

c.1198A>C

1 paper

NM_001129.5

p.S392L

c.1175C>T

5 papers

NM_001129.5

p.R440_Q442delFs

c.1320_1326del7

4 papers

NM_001129.5

p.R440fs

c.1318_1319fs

1 paper

NM_001129.5

p.V457I

c.1369G>A

1 paper

NM_001129.5

p.D469G

c.1406A>G

1 paper

NM_001129.5

p.M487del1

c.1459_1460delATG