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

7 papers

NM_001353345.2

p.H8delFs

c.22delC

Surrounding Variants

7 papers

NM_001353345.2

p.H8insFs

c.22dupC

2 papers

NM_001353345.2

p.P7_H8delFs

c.21_22delCC

2 papers

NM_001353345.2

p.P7del1

c.19_20delCCC

1 paper

NM_001353345.2

p.H5fs

c.13_14fs

1 paper

NM_001353345.2

p.H5_P6del2

c.13_17del6

1 paper

NM_001353345.2

p.P7H

c.20C>A

10 papers

NM_001353345.2

p.H8fs

c.22_23fs

9 papers

NM_001353345.2

p.H8fs

c.22_23fs

1 paper

NM_001353345.2

p.N3insFs

c.7dupA

2 papers

NM_001353345.2

p.H8P

c.23A>C

1 paper

NM_001353345.2

p.M1_E2insFs

c.3_4insA

1 paper

NM_001353345.2

p.E2delFs

c.5_6delAG