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.A173T

c.517G>A

Surrounding Variants

1 paper

NM_004630.4

p.E170G

c.509A>G

1 paper

NM_004630.4

p.K169del1

c.505_506delCTT

1 paper

NM_004630.4

p.M176K

c.527T>A

1 paper

NM_004630.4

p.I177S

c.530T>G

1 paper

NM_004630.4

p.I167delFs

c.501delT

1 paper

NM_004630.4

p.R178W

c.532C>T

1 paper

NM_004630.4

p.R178Q

c.533G>A

1 paper

NM_004630.4

p.G181R

c.541G>C

1 paper

NM_004630.4

p.G181R

c.541G>A

1 paper

NM_004630.4

p.G181del1

c.541_543delCCC

1 paper

NM_004630.4

p.G161_N162delFs

c.483_484delTC

1 paper

NM_004630.4

p.G161G

c.483G>A