Varaico: Literature-Extracted Genetic Variants

NTMT1

17 papers

RefSeq Summary

The METTL11A gene encodes an N-terminal methyltransferase for the RAN (MIM 601179) guanine nucleotide exchange factor regulator of chromosome condensation 1 (RCC1; MIM 179710). METTL11A enzyme alpha-N...

Pfam Domains

Methyltransf_PKaa 1–135UCSCAdoMet dependent proline di-methyltransferase

Methyltransf_PKaa 8–223UCSCAdoMet dependent proline di-methyltransferase

Gene Aliases

HGNC Name

N-terminal Xaa-Pro-Lys N-methyltransferase 1

HGNC Previous Symbols

C9orf32; METTL11A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014064.4

p.Q144H

c.432G>C

Surrounding Variants

1 paper

NM_014064.4

p.Q144H

c.432G>T

1 paper

NM_014064.4

p.D167N

c.499G>A

1 paper

NM_014064.4

p.N168K

c.504C>A

1 paper

NM_014064.4

p.N168K

c.504C>G

1 paper

NM_014064.4

p.M169V

c.505A>G

1 paper

NM_014064.4

p.D177N

c.529G>A

1 paper

NM_014064.4

p.D177A

c.530A>C

1 paper

NM_014064.4

p.D180N

c.538G>A

1 paper

NM_014064.4

p.D180A

c.539A>C

1 paper

NM_014064.4

p.S181N

c.542G>A

1 paper

NM_014064.4

p.E204fs

c.610_611fs

1 paper

NM_014064.4

p.E205Q

c.613G>C