Varaico: Literature-Extracted Genetic Variants

SF1

435 papers

RefSeq Summary

This gene encodes a nuclear pre-mRNA splicing factor. The encoded protein specifically recognizes the intron branch point sequence at the 3' splice site, together with the large subunit of U2 auxiliar...

Pfam Domains

SF1-HHaa 18–130UCSCSplicing factor 1 helix-hairpin domain

SF1-HHaa 143–255UCSCSplicing factor 1 helix-hairpin domain

KH-I_KHDC4-BBPaa 146–227UCSCKHDC4/BBP-like, KH-domain type I

KH-I_KHDC4-BBPaa 271–352UCSCKHDC4/BBP-like, KH-domain type I

zf-CCHCaa 278–293UCSCZinc knuckle

zf-CCHCaa 403–418UCSCZinc knuckle

Gene Aliases

HGNC Name

splicing factor 1

HGNC Previous Symbol

ZNF162

Papers

RefSeq ID

Protein change

DNA change

1–12 of 254 variants

19 papers

NM_004630.4

p.G35E

c.104G>A

11 papers

NM_004630.4

p.T454M

c.1361C>T

9 papers

NM_004630.4

p.R255L

c.764G>T

4 papers

NM_004630.4

p.M141T

c.422T>C

3 papers

NM_004630.4

p.P390S

c.1168C>T

2 papers

NM_004630.4

p.M1V

c.1A>G

2 papers

NM_004630.4

p.M1I

c.3G>T

2 papers

NM_004630.4

p.M1I

c.3G>C

2 papers

NM_004630.4

p.M1I

c.3G>A

2 papers

NM_004630.4

p.A5P

c.13G>C

2 papers

NM_004630.4

p.N6delFs

c.18delG

2 papers

NM_004630.4

p.A51delFs

c.151delC