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.P1313L

c.3938C>T

Surrounding Variants

1 paper

NM_001353345.2

p.E1312G

c.3935A>G

1 paper

NM_001353345.2

p.P1320L

c.3959C>T

3 papers

NM_001353345.2

p.Q1322*

c.3964C>T

1 paper

NM_001353345.2

p.P1323L

c.3968C>T

1 paper

NM_001353345.2

p.P1326L

c.3977C>T

1 paper

NM_001353345.2

p.P1328S

c.3982C>T

3 papers

NM_001353345.2

p.R1329*

c.3985C>T

1 paper

NM_001353345.2

p.P1334R

c.4001C>G

1 paper

NM_001353345.2

p.P1336Q

c.4007C>A

2 papers

NM_001353345.2

p.P1338L

c.4013C>T

2 papers

NM_001353345.2

p.H1347R

c.4040A>G

1 paper

NM_001353345.2

p.P1348S

c.4042C>T