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

6 papers

NM_001330701.2

p.R799C

c.2395C>T

Surrounding Variants

3 papers

NM_001330701.2

p.R799L

c.2396G>T

1 paper

NM_001286717.1

p.R811H

c.2432G>A

4 papers

NM_001330701.2

p.Q788*

c.2362C>T

1 paper

NM_001330701.2

p.M780fs

c.2338_2339fs

4 papers

NM_001330701.2

p.G779Splc

c.2336-1G>T

1 paper

NM_001330701.2

p.A818A

c.2454A>T

1 paper

NM_015239.3

p.K784R

c.2351A>G

1 paper

NM_001286715.1

p.V893F

c.2677G>T

6 papers

NM_001330701.2

p.T851M

c.2552C>T

1 paper

NM_001330701.2

p.T854delFs

c.2561_2562delAG

5 papers

NM_001330701.2

p.Q856*

c.2566C>T

1 paper

NM_001286715.1

p.H910Y

c.2728C>T