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

1–12 of 24 variants

2 papers

NM_014064.4

p.Y19F

c.56A>T

1 paper

NM_014064.4

p.E9K

c.25G>A

1 paper

NM_014064.4

p.G32fs

c.94_95fs

1 paper

NM_014064.4

p.D41G

c.122A>G

1 paper

NM_014064.4

p.L80V

c.238C>G

1 paper

NM_014064.4

p.G108fs

c.322_323fs

1 paper

NM_014064.4

p.W136L

c.407G>T

1 paper

NM_014064.4

p.Q144H

c.432G>C

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