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.F1328delFs

c.3982_3983delTT

Surrounding Variants

1 paper

NM_014712.3

p.S1329_S1330insTCC

c.3985_3989ins9

1 paper

NM_014712.3

p.A1325A

c.3975C>T

1 paper

NM_014712.3

p.P1331L

c.3992C>T

1 paper

NM_014712.3

p.A1323_P1324insTCT

c.3967_3971ins9

1 paper

NM_014712.3

p.E1337A

c.4010A>C

1 paper

NM_014712.3

p.L1315_P1317del3

c.3943_3950del9

1 paper

NM_014712.3

p.P1313fs

c.3937_3938fs

2 papers

NM_014712.3

p.P1310_A1314delFs

c.3930_3940del11

1 paper

NM_014712.3

p.T1309T

c.3927G>A

1 paper

NM_014712.3

p.A1346V

c.4037C>T

1 paper

NM_014712.3

p.V1306_P1308del3

c.3916_3923del9

1 paper

NM_014712.3

p.Q1356*

c.4066C>T