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.A248V

c.743C>T

Surrounding Variants

1 paper

NM_004630.4

p.L244R

c.731T>G

1 paper

NM_004630.4

p.R255W

c.763C>T

1 paper

NM_004630.4

p.R255G

c.763C>G

9 papers

NM_004630.4

p.R255L

c.764G>T

1 paper

NM_004630.4

p.E256K

c.766G>A

1 paper

NM_004630.4

p.R240Q

c.719G>A

1 paper

NM_004630.4

p.E256D

c.768A>T

1 paper

NM_004630.4

p.E256D

c.768A>C

1 paper

NM_004630.4

p.D257N

c.769G>A

1 paper

NM_004630.4

p.L239P

c.716T>C

1 paper

NM_004630.4

p.D257fs

c.769_770fs

2 papers

NM_004630.4

p.D238N

c.712G>A