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.S1383del1

c.4147_4148delAGC

Surrounding Variants

4 papers

NM_014712.3

p.S1383ins0

c.4147_4149dupAGC

1 paper

NM_014712.3

p.S1377del1

c.4129_4130delTCT

2 papers

NM_014712.3

p.S1376del1

c.4126_4128delTCC

1 paper

NM_014712.3

p.E1374D

c.4122G>T

1 paper

NM_014712.3

p.G1387fs

c.4159_4160fs

4 papers

NM_014712.3

p.G1369R

c.4105G>A

3 papers

NM_014712.3

p.G1369R

c.4105G>C

1 paper

NM_014712.3

p.A1388T

c.4162G>A

1 paper

NM_014712.3

p.R1390insFs

c.4168_4169ins14

1 paper

NM_014712.3

p.R1390fs

c.4168_4169fs

1 paper

NM_014712.3

p.R1390Q

c.4169G>A

5 papers

NM_014712.3

p.R1392H

c.4175G>A