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

2 papers

NM_001353345.2

p.R1825P

c.5474G>C

Surrounding Variants

2 papers

NM_001353345.2

p.R1825Q

c.5474G>A

1 paper

NM_001353345.2

p.R1825L

c.5474G>T

2 papers

NM_001353345.2

p.R1825W

c.5473C>T

2 papers

NM_001353345.2

p.K1827R

c.5480A>G

1 paper

NM_001353345.2

p.K1828fs

c.5482_5483fs

1 paper

NM_001353345.2

p.K1830R

c.5489A>G

1 paper

NM_001353345.2

p.I1836insFs

c.5508dupT

1 paper

NM_001353345.2

p.E1851K

c.5551G>A

1 paper

NM_001353345.2

p.E1855Q

c.5563G>C

1 paper

NM_001353345.2

p.Q1821*

c.5461C>T

1 paper

NM_001353345.2

p.N1820fs

c.5458_5459fs

3 papers

NM_001353345.2

p.Q1859*

c.5575C>T