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.L865fs

c.2593_2594fs

Surrounding Variants

1 paper

NM_001353345.2

p.V868A

c.2603T>C

1 paper

NM_001353345.2

p.Q853*

c.2557C>T

1 paper

NM_001353345.2

p.R882C

c.2644C>T

2 papers

NM_001353345.2

p.R882H

c.2645G>A

1 paper

NM_001353345.2

p.V885V

c.2655G>A

1 paper

NM_001353345.2

p.E886G

c.2657A>G

1 paper

NM_001353345.2

p.P842L

c.2525C>T

1 paper

NM_001353345.2

p.A889D

c.2666C>A

1 paper

NM_001353345.2

p.F893S

c.2678T>C

1 paper

NM_001353345.2

p.E895V

c.2684A>T

1 paper

NM_001353345.2

p.H833Y

c.2497C>T

1 paper

NM_001353345.2

p.G831E

c.2492G>A