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.L1474insFs

c.4420_4421ins8

Surrounding Variants

1 paper

NM_001353345.2

p.E1469V

c.4406A>T

1 paper

NM_001353345.2

p.E1469fs

c.4405_4406fs

1 paper

NM_001353345.2

p.L1467_L1474delFs

c.4401_4422del22

1 paper

NM_001353345.2

p.P1465L

c.4394C>T

1 paper

NM_001353345.2

p.A1463fs

c.4387_4388fs

1 paper

NM_001353345.2

p.A1463delFs

c.4387delG

1 paper

NM_001353345.2

p.S1459F

c.4376C>T

1 paper

NM_001353345.2

p.R1458C

c.4372C>T

1 paper

NM_001353345.2

p.R1491Q

c.4472G>A

1 paper

NM_001353345.2

p.D1456_R1458delFs

c.4368_4374del7

3 papers

NM_001353345.2

p.R1454*

c.4360C>T

1 paper

NM_001353345.2

p.V1447I

c.4339G>A