Varaico: Literature-Extracted Genetic Variants

SETD1A

302 papers

RefSeq Summary

The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H...

Pfam Domains

RRM_1aa 99–166UCSCRNA recognition motif

N-SETaa 1425–1562UCSCCOMPASS (Complex proteins associated with Set1p) component N

SETaa 1579–1685UCSCSET domain

Gene Aliases

HGNC Name

SET domain containing 1A, histone lysine methyltransferase

HGNC Alias Symbols

KIAA0339; Set1; KMT2F; SET1A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014712.3

p.P707delFs

c.2121delC

Surrounding Variants

2 papers

NM_014712.3

p.G705insFs

c.2115dupC

1 paper

NM_014712.3

p.G705insFs

c.2113_2114insC

2 papers

NM_014712.3

p.G705fs

c.2113_2114fs

2 papers

NM_014712.3

p.P707insFs

c.2120_2121insA

2 papers

NM_014712.3

p.G708fs

c.2122_2123fs

1 paper

NM_014712.3

p.L699*

c.2096T>A

1 paper

NM_014712.3

p.G712E

c.2135G>A

2 papers

NM_014712.3

p.A724T

c.2170G>A

1 paper

NM_014712.3

p.G727S

c.2179G>A

1 paper

NM_014712.3

p.Y730C

c.2189A>G

1 paper

NM_014712.3

p.L732V

c.2194C>G

1 paper

NM_014712.3

p.Q735fs

c.2203_2204fs