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.S1397S

c.4191C>T

Surrounding Variants

1 paper

NM_001353345.2

p.P1401L

c.4202C>T

1 paper

NM_001353345.2

p.G1391fs

c.4171_4172fs

1 paper

NM_001353345.2

p.P1388L

c.4163C>T

1 paper

NM_001353345.2

p.S1414Y

c.4241C>A

1 paper

NM_001353345.2

p.Q1374*

c.4120C>T

2 papers

NM_001353345.2

p.R1424Q

c.4271G>A

1 paper

NM_001353345.2

p.E1438K

c.4312G>A

1 paper

NM_001353345.2

p.P1354_G1365del12

c.4060_4094del36

2 papers

NM_001353345.2

p.P1354_G1368del15

c.4060_4103del45

1 paper

NM_001353345.2

p.V1447I

c.4339G>A

1 paper

NM_001353345.2

p.P1348S

c.4042C>T

2 papers

NM_001353345.2

p.H1347R

c.4040A>G