Varaico: Literature-Extracted Genetic Variants

EHMT1

560 papers

RefSeq Summary

The protein encoded by this gene is a histone methyltransferase that methylates the lysine-9 position of histone H3. This action marks the genomic region packaged with these methylated histones for tr...

Pfam Domains

EHMT1-2_CRRaa 540–633UCSCHistone-lysine N-methyltransferase EHMT1/EHMT2, Cys-rich region

Ank_2aa 742–836UCSCAnkyrin repeats (3 copies)

Ank_2aa 828–903UCSCAnkyrin repeats (3 copies)

Ank_2aa 910–997UCSCAnkyrin repeats (3 copies)

Pre-SETaa 1015–1118UCSCPre-SET motif

SETaa 1137–1243UCSCSET domain

Gene Aliases

HGNC Name

euchromatic histone lysine methyltransferase 1

HGNC Previous Symbol

EHMT1-IT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024757.5

p.F1191L

c.3571T>C

Surrounding Variants

1 paper

NM_024757.5

p.F1191L

c.3573C>A

1 paper

NM_024757.5

p.F1191L

c.3573C>G

1 paper

NM_024757.5

p.R1190Q

c.3569G>A

4 papers

NM_024757.5

p.G1193R

c.3577G>A

4 papers

NM_024757.5

p.G1193R

c.3577G>C

2 papers

NM_024757.5

p.G1193E

c.3578G>A

2 papers

NM_024757.5

p.D1188N

c.3562G>A

1 paper

NM_024757.5

p.N1194I

c.3581A>T

1 paper

NM_024757.5

p.V1195_F1198del0

c.3583_3594del12

1 paper

NM_024757.5

p.V1195I

c.3583G>A

8 papers

NM_024757.5

p.R1197W

c.3589C>T

1 paper

NM_024757.5

p.F1198del1

c.3592_3593delTTC