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.R990*

c.2968C>T

Surrounding Variants

1 paper

NM_014712.3

p.D987N

c.2959G>A

1 paper

NM_014712.3

p.D984N

c.2950G>A

1 paper

NM_014712.3

p.D980insFs

c.2939_2940insG

1 paper

NM_014712.3

p.E1002fs

c.3004_3005fs

1 paper

NM_014712.3

p.H955H

c.2865C>T

1 paper

NM_014712.3

p.R944W

c.2830C>T

1 paper

NM_014712.3

p.P937L

c.2810C>T

1 paper

NM_014712.3

p.E928K

c.2782G>A

1 paper

NM_014712.3

p.E1007K

c.3019G>A

1 paper

NM_014712.3

p.E1009D

c.3027G>T

1 paper

NM_014712.3

p.S1018_A1021delFs

c.3053_3062del10

1 paper

NM_014712.3

p.Y1020F

c.3059A>T