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.E494K

c.1480G>A

Surrounding Variants

1 paper

NM_001129.5

p.Y492*

c.1476T>A

1 paper

NM_001129.5

p.M495T

c.1484T>C

1 paper

NM_001129.5

p.Y492*

c.1476T>G

1 paper

NM_001129.5

p.M495_T496Splc

c.1485+1G>A

8 papers

NM_001129.5

p.N490delFs

c.1470delC

1 paper

NM_001129.5

p.N490fs

c.1468_1469fs

1 paper

NM_001129.5

p.M487del1

c.1459_1460delATG

1 paper

NM_001129.5

p.D469G

c.1406A>G

1 paper

NM_001129.5

p.V501M

c.1501G>A

1 paper

NM_001129.5

p.V516Fs

c.1547delinsTGGCTCGTTCCFs

1 paper

NM_001129.5

p.G529A

c.1586G>C

1 paper

NM_001129.5

p.V537_P544delFs

c.1609_1630del22