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.Q194H

c.582G>T

Surrounding Variants

1 paper

NM_004630.4

p.Q194H

c.582G>C

1 paper

NM_004630.4

p.Q194R

c.581A>G

1 paper

NM_001178030.2

p.M320T

c.959T>C

1 paper

NM_001178030.2

p.G323R

c.967G>C

1 paper

NM_001178030.2

p.G323R

c.967G>A

1 paper

NM_004630.4

p.R190C

c.568C>T

1 paper

NM_004630.4

p.G189delFs

c.565delC

1 paper

NM_004630.4

p.E199V

c.596A>T

1 paper

NM_004630.4

p.P202T

c.604C>A

1 paper

NM_004630.4

p.E185E

c.555A>G

1 paper

NM_004630.4

p.H204R

c.611A>G

1 paper

NM_004630.4

p.V207D

c.620T>A