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

2 papers

NM_014712.3

p.E1110K

c.3328G>A

Surrounding Variants

1 paper

NM_014712.3

p.L1108V

c.3322C>G

1 paper

NM_014712.3

p.A1113V

c.3338C>T

1 paper

NM_014712.3

p.R1117M

c.3350G>T

1 paper

NM_014712.3

p.P1097P

c.3291G>A

1 paper

NM_014712.3

p.R1070W

c.3208C>T

1 paper

NM_014712.3

p.E1067D

c.3201A>C

1 paper

NM_014712.3

p.E1067D

c.3201A>T

1 paper

NM_014712.3

p.S1062fs

c.3184_3185fs

1 paper

NM_014712.3

p.S1061insFs

c.3182_3183ins5

1 paper

NM_014712.3

p.S1060fs

c.3178_3179fs

1 paper

NM_014712.3

p.S1060_S1061delFs

c.3178_3182del5

2 papers

NM_014712.3

p.S1058del1

c.3172_3173delTCT