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.A1506insFs

c.4516dupG

Surrounding Variants

1 paper

NM_001353345.2

p.A1506T

c.4516G>A

1 paper

NM_001353345.2

p.A1506fs

c.4516_4517fs

1 paper

NM_001353345.2

p.L1508fs

c.4522_4523fs

1 paper

NM_001353345.2

p.L1508fs

c.4522_4523fs

1 paper

NM_001353345.2

p.P1513fs

c.4537_4538fs

1 paper

NM_001353345.2

p.R1491Q

c.4472G>A

1 paper

NM_001353345.2

p.G1520D

c.4559G>A

1 paper

NM_001353345.2

p.R1523W

c.4567C>T

1 paper

NM_001353345.2

p.R1524*

c.4570C>T

1 paper

NM_001353345.2

p.M1529V

c.4585A>G

1 paper

NM_001353345.2

p.L1474insFs

c.4420_4421ins8

2 papers

NM_001353345.2

p.P1540fs

c.4618_4619fs