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

3 papers

NM_014712.3

p.E909*

c.2725G>T

Surrounding Variants

6 papers

NM_014712.3

p.R913C

c.2737C>T

2 papers

NM_014712.3

p.D921N

c.2761G>A

1 paper

NM_014712.3

p.V895I

c.2683G>A

1 paper

NM_014712.3

p.S892*

c.2675C>A

1 paper

NM_014712.3

p.S892*

c.2675C>G

1 paper

NM_014712.3

p.R885S

c.2655A>C

1 paper

NM_014712.3

p.R885S

c.2655A>T

1 paper

NM_014712.3

p.L884_R885ins8

c.2650_2654ins24

1 paper

NM_014712.3

p.L884L

c.2650C>T

2 papers

NM_014712.3

p.G881V

c.2642G>T

1 paper

NM_014712.3

p.E876*

c.2626G>T

1 paper

NM_014712.3

p.E857K

c.2569G>A