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

Selected Variant

1 paper

NM_004630.4

p.V136E

c.407T>A

Surrounding Variants

1 paper

NM_004630.4

p.V136A

c.407T>C

1 paper

NM_004630.4

p.R135delFs

c.405delA

1 paper

NM_004630.4

p.A133V

c.398C>T

1 paper

NM_004630.4

p.A133G

c.398C>G

1 paper

NM_004630.4

p.V140_M141ins4

c.418_422ins12

4 papers

NM_004630.4

p.M141T

c.422T>C

2 papers

NM_004630.4

p.P131L

c.392C>T

1 paper

NM_004630.4

p.P131R

c.392C>G

1 paper

NM_004630.4

p.V140_M141del1

c.419_421delTGA

1 paper

NM_004630.4

p.I150M

c.450C>G

1 paper

NM_004630.4

p.G154R

c.460G>C

1 paper

NM_004630.4

p.G154R

c.460G>A