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.P14_P15insC

c.40_44ins3

Surrounding Variants

1 paper

NM_001353345.2

p.P14S

c.40C>T

1 paper

NM_001353345.2

p.H11Q

c.33C>A

1 paper

NM_001353345.2

p.H11Q

c.33C>G

2 papers

NM_001353345.2

p.H10Q

c.30C>A

2 papers

NM_001353345.2

p.H10Q

c.30C>G

2 papers

NM_001353345.2

p.H8P

c.23A>C

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.P7H

c.20C>A

1 paper

NM_001353345.2

p.S21_G22del2

c.61_65del6

1 paper

NM_001353345.2

p.S21L

c.62C>T

7 papers

NM_001353345.2

p.H8insFs

c.22dupC