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.Q1555insFs

c.4664_4665ins10

Surrounding Variants

2 papers

NM_001353345.2

p.G1554A

c.4661G>C

1 paper

NM_001353345.2

p.A1543_A1544insFs

c.4629_4630ins4

1 paper

NM_001353345.2

p.A1543_A1544insFs

c.4629_4630ins5

1 paper

NM_001353345.2

p.A1543_A1544insFs

c.4629_4630ins7

1 paper

NM_001353345.2

p.A1543_A1544insFs

c.4629_4630ins8

1 paper

NM_001353345.2

p.A1541G

c.4622C>G

1 paper

NM_001353345.2

p.A1541V

c.4622C>T

2 papers

NM_001353345.2

p.P1540fs

c.4618_4619fs

1 paper

NM_001353345.2

p.M1529V

c.4585A>G

1 paper

NM_001353345.2

p.P1584_L1586delFs

c.4752_4758del7

1 paper

NM_001353345.2

p.L1586fs

c.4756_4757fs

1 paper

NM_001353345.2

p.R1524*

c.4570C>T