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

1–12 of 373 variants

6 papers

NM_014712.3

p.R913C

c.2737C>T

5 papers

NM_014712.3

p.R1392H

c.4175G>A

5 papers

NM_014712.3

p.Y1499D

c.4495T>G

4 papers

NM_014712.3

p.Q269R

c.806A>G

4 papers

NM_014712.3

p.S288C

c.863C>G

4 papers

NM_014712.3

p.R990*

c.2968C>T

4 papers

NM_014712.3

p.G1369R

c.4105G>A

4 papers

NM_014712.3

p.S1383ins0

c.4147_4149dupAGC

3 papers

NM_014712.3

p.Q37*

c.109C>T

3 papers

NM_014712.3

p.R253*

c.757C>T

3 papers

NM_014712.3

p.E909*

c.2725G>T

3 papers

NM_014712.3

p.S1043del1

c.3127_3129delTCC