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.G1794V

c.5381G>T

Surrounding Variants

1 paper

NM_001353345.2

p.S1795P

c.5383T>C

2 papers

NM_001353345.2

p.R1792W

c.5374C>T

1 paper

NM_001353345.2

p.T1791S

c.5371A>T

1 paper

NM_001353345.2

p.R1798H

c.5393G>A

1 paper

NM_001353345.2

p.S1807S

c.5421C>T

1 paper

NM_001353345.2

p.N1820fs

c.5458_5459fs

1 paper

NM_001353345.2

p.Q1821*

c.5461C>T

2 papers

NM_001353345.2

p.R1825W

c.5473C>T

2 papers

NM_001353345.2

p.R1825Q

c.5474G>A

2 papers

NM_001353345.2

p.R1825P

c.5474G>C

1 paper

NM_001353345.2

p.R1825L

c.5474G>T

2 papers

NM_001353345.2

p.K1827R

c.5480A>G