Varaico: Literature-Extracted Genetic Variants

FTSJ3

68 papers

RefSeq Summary

Although the function of this gene is not known, the existence of this gene is supported by mRNA and EST data. A possible function of the encoded protein can be inferred from amino acid sequence simil...

Pfam Domains

FtsJaa 24–200UCSCFtsJ-like methyltransferase

DUF3381aa 231–400UCSCRibosomal RNA methyltransferase Spb1, DUF3381

Spb1_Caa 608–840UCSCSpb1 C-terminal domain

Gene Aliases

HGNC Name

FtsJ RNA 2'-O-methyltransferase 3

HGNC Alias Symbol

SPB1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 62 variants

4 papers

NM_017647.4

p.Q91E

c.271C>G

3 papers

NM_017647.4

p.S424C

c.1270A>T

2 papers

NM_017647.4

p.D449H

c.1345G>C

1 paper

NM_017647.4

p.M1K

c.2T>A

1 paper

NM_017647.4

p.G2A

c.5G>C

1 paper

NM_017647.4

p.S10_R11insFs

c.30_31ins4

1 paper

NM_017647.4

p.F15L

c.43T>C

1 paper

NM_017647.4

p.F15L

c.45T>G

1 paper

NM_017647.4

p.F15L

c.45T>A

1 paper

NM_017647.4

p.G23Splc

c.68-42C>A

1 paper

NM_017647.4

p.A29V

c.86C>T

1 paper

NM_017647.4

p.F30L

c.90C>G