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.P1641S

c.4921C>T

Surrounding Variants

1 paper

NM_001353345.2

p.P1646P

c.4938T>A

1 paper

NM_001353345.2

p.L1653L

c.4957C>T

1 paper

NM_001353345.2

p.D1626E

c.4878T>A

1 paper

NM_001353345.2

p.D1626E

c.4878T>G

1 paper

NM_001353345.2

p.R1623H

c.4868G>A

1 paper

NM_001353345.2

p.G1621fs

c.4861_4862fs

1 paper

NM_001353345.2

p.P1620_G1621Fs

c.4860_4862delinsATCATFs

1 paper

NM_001353345.2

p.P1620L

c.4859C>T

2 papers

NM_001353345.2

p.Q1666*

c.4996C>T

1 paper

NM_001353345.2

p.Q1666fs

c.4996_4997fs

1 paper

NM_001353345.2

p.W1613*

c.4839G>A

1 paper

NM_001353345.2

p.W1613*

c.4838G>A