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.L1038L

c.3114C>G

Surrounding Variants

1 paper

NM_001129.5

p.A1040T

c.3118G>A

1 paper

NM_001129.5

p.R1034W

c.3100C>T

1 paper

NM_001129.5

p.V1049_P1051del3

c.3145_3152del9

1 paper

NM_001129.5

p.R1026C

c.3076C>T

2 papers

NM_001129.5

p.R1021*

c.3061C>T

1 paper

NM_001129.5

p.R1016*

c.3046C>T

1 paper

NM_001129.5

p.R1016_L1018del3

c.3046_3053del9

1 paper

NM_001129.5

p.Q1015_Q1019del0

c.3043_3057del15

1 paper

NM_001129.5

p.T1012fs

c.3034_3035fs

1 paper

NM_001129.5

p.E1079G

c.3236A>G

1 paper

NM_001129.5

p.N997_G998ins3

c.2991_2992ins9

1 paper

NM_001129.5

p.M996T

c.2987T>C