Varaico: Literature-Extracted Genetic Variants

SETMAR

103 papers

RefSeq Summary

This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA...

Pfam Domains

Pre-SETaa 31–131UCSCPre-SET motif

SETaa 150–263UCSCSET domain

HTH_48aa 348–397UCSCHTH domain in Mos1 transposase

Transposase_1aa 501–580UCSCTransposase (partial DDE domain)

Gene Aliases

HGNC Name

SET and mariner transposase domain methyltransferase

HGNC Alias Symbol

metnase

Papers

RefSeq ID

Protein change

DNA change

1–12 of 79 variants

2 papers

NM_006515.4

p.P44S

c.130C>T

2 papers

NM_006515.4

p.R123*

c.367C>T

2 papers

NM_006515.4

p.D126G

c.377A>G

2 papers

NM_006515.4

p.R236*

c.706C>T

2 papers

NM_006515.4

p.T534I

c.1601C>T

2 papers

NM_006515.4

p.I535V

c.1603A>G

2 papers

NM_006515.4

p.Q635_G636delFs

c.1903_1907del5

1 paper

NM_006515.4

p.M1K

c.2T>A

1 paper

NM_006515.4

p.A3A

c.9G>A

1 paper

NM_006515.4

p.A6V

c.17C>T

1 paper

NM_006515.4

p.C12F

c.35G>T

1 paper

NM_006515.4

p.K20R

c.59A>G