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

1–12 of 158 variants

7 papers

NM_001330701.2

p.R918W

c.2752C>T

6 papers

NM_001330701.2

p.R799C

c.2395C>T

6 papers

NM_001330701.2

p.T851M

c.2552C>T

6 papers

NM_001330701.2

p.H990L

c.2969A>T

5 papers

NM_001330701.2

p.R330*

c.988C>T

5 papers

NM_001330701.2

p.Y694D

c.2080T>G

5 papers

NM_001330701.2

p.Q856*

c.2566C>T

4 papers

NM_001330701.2

p.G779Splc

c.2336-1G>T

4 papers

NM_001330701.2

p.Q788*

c.2362C>T

4 papers

NM_001330701.2

p.R910C

c.2728C>T

4 papers

NM_001330701.2

p.Y912*

c.2736C>G

4 papers

NM_001330701.2

p.Y912*

c.2736C>A