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.L1268L

c.3804G>A

Surrounding Variants

1 paper

NM_014712.3

p.G1267R

c.3799G>A

1 paper

NM_014712.3

p.G1267R

c.3799G>C

1 paper

NM_014712.3

p.E1285K

c.3853G>A

1 paper

NM_014712.3

p.E1250Q

c.3748G>C

1 paper

NM_014712.3

p.R1288C

c.3862C>T

1 paper

NM_014712.3

p.R1238H

c.3713G>A

1 paper

NM_014712.3

p.R1236*

c.3706C>T

1 paper

NM_014712.3

p.V1306_P1308del3

c.3916_3923del9

1 paper

NM_014712.3

p.G1228A

c.3683G>C

1 paper

NM_014712.3

p.T1309T

c.3927G>A

1 paper

NM_014712.3

p.R1227Q

c.3680G>A

2 papers

NM_014712.3

p.P1310_A1314delFs

c.3930_3940del11