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

3 papers

NM_004630.4

p.P390S

c.1168C>T

Surrounding Variants

1 paper

NM_004630.4

p.G391R

c.1171G>C

1 paper

NM_004630.4

p.G391R

c.1171G>A

1 paper

NM_004630.4

p.G388D

c.1163G>A

1 paper

NM_004630.4

p.G392A

c.1175G>C

1 paper

NM_004630.4

p.G386D

c.1157G>A

1 paper

NM_004630.4

p.P394T

c.1180C>A

1 paper

NM_004630.4

p.F397L

c.1189T>C

2 papers

NM_004630.4

p.H380Y

c.1138C>T

1 paper

NM_004630.4

p.G372_E375delFs

c.1115_1125del11

1 paper

NM_004630.4

p.E375D

c.1125G>C

1 paper

NM_004630.4

p.L404insFs

c.1211_1212insTA

1 paper

NM_004630.4

p.G372del1

c.1114_1116delGCC