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.A1551T

c.4651G>A

Surrounding Variants

1 paper

NM_014712.3

p.M1553_S1555del3

c.4657_4664del9

1 paper

NM_014712.3

p.Q1540*

c.4618C>T

1 paper

NM_014712.3

p.E1539K

c.4615G>A

1 paper

NM_014712.3

p.R1537W

c.4609C>T

1 paper

NM_014712.3

p.E1535K

c.4603G>A

1 paper

NM_014712.3

p.L1533fs

c.4597_4598fs

1 paper

NM_014712.3

p.V1532_L1533insFs

c.4596_4597insG

1 paper

NM_014712.3

p.V1532L

c.4594G>T

2 papers

NM_014712.3

p.Q1527_G1528Splc

c.4582-2A>G

1 paper

NM_014712.3

p.V1524L

c.4570G>C

1 paper

NM_014712.3

p.V1524L

c.4570G>T

1 paper

NM_014712.3

p.S1517L

c.4550C>T