Varaico: Literature-Extracted Genetic Variants

AGTPBP1

86 papers

RefSeq Summary

NNA1 is a zinc carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM, ...

Pfam Domains

TPR_CCP1_Naa 16–325UCSCCCP1-like, N-terminal TPR repeats

TPR_CCP1_Naa 68–377UCSCCCP1-like, N-terminal TPR repeats

Pepdidase_M14_Naa 712–847UCSCCytosolic carboxypeptidase N-terminal domain

Peptidase_M14aa 858–1060UCSCZinc carboxypeptidase

Peptidase_M14aa 910–1103UCSCZinc carboxypeptidase

Gene Aliases

HGNC Name

ATP/GTP binding carboxypeptidase 1

HGNC Alias Symbols

KIAA1035; Nna1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001330701.2

p.H969Y

c.2905C>T

Surrounding Variants

2 papers

NM_001330701.2

p.R970C

c.2908C>T

1 paper

NM_001330701.2

p.R970P

c.2909G>C

1 paper

NM_001330701.2

p.L973_S974ins4

c.2917_2921ins12

6 papers

NM_001330701.2

p.H990L

c.2969A>T

1 paper

NM_001330701.2

p.Y994Y

c.2982C>T

1 paper

NM_001330701.2

p.V964V

c.2892C>T

1 paper

NM_001330701.2

p.N960insFs

c.2879_2880ins4

1 paper

NM_001330701.2

p.L959_N960ins2

c.2877_2878ins6

2 papers

NM_001286715.1

p.R1000*

c.2998C>T

1 paper

NM_001330701.2

p.W928*

c.2783G>A

1 paper

NM_001330701.2

p.S1045P

c.3133T>C

1 paper

NM_001286715.1

p.C1098Y

c.3293G>A