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

4 papers

NM_014712.3

p.Q269R

c.806A>G

Surrounding Variants

1 paper

NM_014712.3

p.G261D

c.782G>A

2 papers

NM_014712.3

p.G261C

c.781G>T

1 paper

NM_014712.3

p.S282F

c.845C>T

1 paper

NM_014712.3

p.Q254R

c.761A>G

3 papers

NM_014712.3

p.R253*

c.757C>T

1 paper

NM_014712.3

p.S288T

c.862T>A

4 papers

NM_014712.3

p.S288C

c.863C>G

1 paper

NM_014712.3

p.S244F

c.731C>T

1 paper

NM_014712.3

p.P242P

c.726C>T

1 paper

NM_014712.3

p.P242delFs

c.726delC

1 paper

NM_014712.3

p.T236delFs

c.707delC

1 paper

NM_014712.3

p.G235D

c.704G>A