Varaico: Literature-Extracted Genetic Variants

SF3A3

68 papers

RefSeq Summary

This gene encodes subunit 3 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP int...

Pfam Domains

SF3a60_bindingdaa 74–100UCSCSplicing factor SF3a60 binding domain

SF3A3aa 129–180UCSCPre-mRNA-splicing factor SF3A3, of SF3a complex, Prp9

SDE2_2Caa 224–303UCSCReplication stress response SDE2 C-terminal

SF3a60_Prp9_Caa 382–501UCSCSF3a60/Prp9 C-terminal

Gene Aliases

HGNC Name

splicing factor 3a subunit 3

HGNC Alias Symbols

SF3a60; SAP61; PRP9; PRPF9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006802.4

p.R430H

c.1289G>A

Surrounding Variants

1 paper

NM_006802.4

p.H431L

c.1292A>T

1 paper

NM_006802.4

p.P441Q

c.1322C>A

1 paper

NM_006802.4

p.A447T

c.1339G>A

1 paper

NM_006802.4

p.T450I

c.1349C>T

1 paper

NM_006802.4

p.N405D

c.1213A>G

1 paper

NM_006802.4

p.I392V

c.1174A>G

1 paper

NM_006802.4

p.G389R

c.1165G>C

1 paper

NM_006802.4

p.N382T

c.1145A>C

1 paper

NM_006802.4

p.E373K

c.1117G>A

2 papers

NM_006802.4

p.E370K

c.1108G>A

1 paper

NM_006802.4

p.S367T

c.1100G>C

1 paper

NM_006802.4

p.E361K

c.1081G>A