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.D93E

c.279T>G

Surrounding Variants

1 paper

NM_001353345.2

p.D93E

c.279T>A

1 paper

NM_001353345.2

p.E94_V97delFs

c.281_291del11

2 papers

NM_001353345.2

p.E94fs

c.280_281fs

1 paper

NM_001353345.2

p.E94_F95delFs

c.281_284del4

1 paper

NM_001353345.2

p.E94D

c.282G>C

1 paper

NM_001353345.2

p.E94D

c.282G>T

1 paper

NM_001353345.2

p.F95fs

c.283_284fs

1 paper

NM_001353345.2

p.F95_Y96Fs

c.284_286delinsAFs

1 paper

NM_001353345.2

p.K91_I92Splc

c.274-1G>C

1 paper

NM_001353345.2

p.Y96N

c.286T>A

1 paper

NM_001353345.2

p.Y96delFs

c.288delC

1 paper

NM_001353345.2

p.Y96*

c.288C>A