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.L875M

c.2623C>A

Surrounding Variants

1 paper

NM_001129.5

p.L875P

c.2624T>C

1 paper

NM_001129.5

p.E870K

c.2608G>A

1 paper

NM_001129.5

p.E885Q

c.2653G>C

1 paper

NM_001129.5

p.R888C

c.2662C>T

1 paper

NM_001129.5

p.I858M

c.2574C>G

1 paper

NM_001129.5

p.V846I

c.2536G>A

1 paper

NM_001129.5

p.I845I

c.2535C>T

1 paper

NM_001129.5

p.I817I

c.2451C>T

1 paper

NM_001129.5

p.A921V

c.2762C>T

1 paper

NM_001129.5

p.A810T

c.2428G>A

1 paper

NM_001129.5

p.E802K

c.2404G>A

1 paper

NM_001129.5

p.E795fs

c.2383_2384fs