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.R21S

c.61C>A

Surrounding Variants

1 paper

NM_004630.4

p.S20T

c.59G>C

1 paper

NM_004630.4

p.R19G

c.55A>G

1 paper

NM_004630.4

p.R17Q

c.50G>A

1 paper

NM_004630.4

p.K16delFs

c.48delC

1 paper

NM_004630.4

p.F12_P13insFs

c.36_37insC

1 paper

NM_004630.4

p.T31I

c.92C>T

19 papers

NM_004630.4

p.G35E

c.104G>A

1 paper

NM_004630.4

p.G35G

c.105A>C

1 paper

NM_004630.4

p.T38_P42delFs

c.112_124del13

1 paper

NM_004630.4

p.R46G

c.136C>G

1 paper

NM_004630.4

p.E47insFs

c.140_141ins4

1 paper

NM_004630.4

p.Q48E

c.142C>G