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.T1717S

c.5149A>T

Surrounding Variants

1 paper

NM_001353345.2

p.P1723S

c.5167C>T

1 paper

NM_001353345.2

p.S1724C

c.5171C>G

1 paper

NM_001353345.2

p.D1708E

c.5124C>A

1 paper

NM_001353345.2

p.D1708E

c.5124C>G

1 paper

NM_001353345.2

p.D1708D

c.5124C>T

1 paper

NM_001353345.2

p.R1695H

c.5084G>A

4 papers

NM_001353345.2

p.E1692del1

c.5074_5075delGAG

3 papers

NM_001353345.2

p.G1687S

c.5059G>A

1 paper

NM_001353345.2

p.N1686insFs

c.5057_5058ins14

1 paper

NM_001353345.2

p.N1686fs

c.5056_5057fs

1 paper

NM_001353345.2

p.R1670Q

c.5009G>A

2 papers

NM_001353345.2

p.Q1666*

c.4996C>T