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.N483S

c.1448A>G

Surrounding Variants

1 paper

NM_006515.4

p.N485H

c.1453A>C

1 paper

NM_006515.4

p.D490Y

c.1468G>T

1 paper

NM_006515.4

p.D496A

c.1487A>C

1 paper

NM_006515.4

p.K498R

c.1493A>G

1 paper

NM_006515.4

p.S508A

c.1522T>G

1 paper

NM_006515.4

p.I525N

c.1574T>A

1 paper

NM_006515.4

p.P528S

c.1582C>T

1 paper

NM_006515.4

p.N437S

c.1310A>G

2 papers

NM_006515.4

p.T534I

c.1601C>T

2 papers

NM_006515.4

p.I535V

c.1603A>G

1 paper

NM_006515.4

p.R430Q

c.1289G>A

1 paper

NM_006515.4

p.Y545*

c.1635C>A