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

Selected Variant

1 paper

NM_006515.4

p.K20R

c.59A>G

Surrounding Variants

1 paper

NM_006515.4

p.C12F

c.35G>T

1 paper

NM_006515.4

p.D29N

c.85G>A

1 paper

NM_006515.4

p.A6V

c.17C>T

1 paper

NM_006515.4

p.A3A

c.9G>A

1 paper

NM_006515.4

p.M1K

c.2T>A

2 papers

NM_006515.4

p.P44S

c.130C>T

1 paper

NM_006515.4

p.G45R

c.133G>A

1 paper

NM_006515.4

p.G45R

c.133G>C

1 paper

NM_006515.4

p.C87Y

c.260G>A

1 paper

NM_006515.4

p.R91H

c.272G>A

1 paper

NM_006515.4

p.C101_L102insFs

c.303_304ins4

1 paper

NM_006515.4

p.E113K

c.337G>A