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

1–12 of 483 variants

10 papers

NM_001353345.2

p.H8fs

c.22_23fs

9 papers

NM_001353345.2

p.H8fs

c.22_23fs

7 papers

NM_001353345.2

p.H8insFs

c.22dupC

7 papers

NM_001353345.2

p.H8delFs

c.22delC

6 papers

NM_001353345.2

p.R1902C

c.5704C>T

5 papers

NM_001353345.2

p.V129G

c.386T>G

5 papers

NM_001353345.2

p.R1885W

c.5653C>T

4 papers

NM_001353345.2

p.A807V

c.2420C>T

4 papers

NM_001353345.2

p.E1692del1

c.5074_5075delGAG

4 papers

NM_001353345.2

p.Q1863_V1864Splc

c.5589+1G>A

3 papers

NM_001353345.2

p.W29*

c.86G>A

3 papers

NM_001353345.2

p.W29*

c.87G>A