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.E1506Q

c.4516G>C

Surrounding Variants

1 paper

NM_014712.3

p.D1508G

c.4523A>G

1 paper

NM_014712.3

p.D1512D

c.4536C>T

5 papers

NM_014712.3

p.Y1499D

c.4495T>G

2 papers

NM_014712.3

p.G1498D

c.4493G>A

1 paper

NM_014712.3

p.P1515_V1516ins4

c.4543_4547ins12

1 paper

NM_014712.3

p.S1517L

c.4550C>T

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.N1472K

c.4416C>A

1 paper

NM_014712.3

p.N1472K

c.4416C>G

1 paper

NM_014712.3

p.I1470Splc

c.4409-2A>G

2 papers

NM_014712.3

p.Q1527_G1528Splc

c.4582-2A>G