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.G156R

c.466G>C

Surrounding Variants

1 paper

NM_001353345.2

p.G156R

c.466G>A

1 paper

NM_001353345.2

p.T153delFs

c.457delA

2 papers

NM_001353345.2

p.F151_A152delFs

c.452_456del5

1 paper

NM_001353345.2

p.K148_V149delFs

c.444_445delGG

1 paper

NM_001353345.2

p.K148fs

c.442_443fs

1 paper

NM_001353345.2

p.H143Y

c.427C>T

1 paper

NM_001353345.2

p.V169fs

c.505_506fs

1 paper

NM_001353345.2

p.K142fs

c.424_425fs

3 papers

NM_001353345.2

p.M170T

c.509T>C

2 papers

NM_001353345.2

p.K139M

c.416A>T

1 paper

NM_001353345.2

p.G182Splc

c.544+2T>C

5 papers

NM_001353345.2

p.V129G

c.386T>G