Varaico: Literature-Extracted Genetic Variants

SETD1B

243 papers

RefSeq Summary

SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Mar 2008].

Pfam Domains

RRM_1aa 108–175UCSCRNA recognition motif

N-SETaa 1679–1821UCSCCOMPASS (Complex proteins associated with Set1p) component N

SETaa 1838–1944UCSCSET domain

Gene Aliases

HGNC Name

SET domain containing 1B, histone lysine methyltransferase

HGNC Alias Symbols

KIAA1076; Set1B; KMT2G

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001353345.2

p.M35I

c.105G>A

Surrounding Variants

1 paper

NM_001353345.2

p.P38S

c.112C>T

1 paper

NM_001353345.2

p.Y32*

c.96C>A

1 paper

NM_001353345.2

p.Y32*

c.96C>G

1 paper

NM_001353345.2

p.Y32N

c.94T>A

1 paper

NM_001353345.2

p.R30K

c.89G>A

3 papers

NM_001353345.2

p.W29*

c.87G>A

3 papers

NM_001353345.2

p.W29*

c.86G>A

1 paper

NM_001353345.2

p.Y48N

c.142T>A

1 paper

NM_001353345.2

p.R49H

c.146G>A

1 paper

NM_001353345.2

p.S21L

c.62C>T

1 paper

NM_001353345.2

p.S21_G22del2

c.61_65del6

1 paper

NM_001353345.2

p.H54L

c.161A>T