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.M475V

c.1423A>G

Surrounding Variants

1 paper

NM_004630.4

p.P474S

c.1420C>T

1 paper

NM_004630.4

p.M477K

c.1430T>A

1 paper

NM_004630.4

p.P472P

c.1416A>T

1 paper

NM_004630.4

p.P480fs

c.1438_1439fs

2 papers

NM_004630.4

p.P483_P484del1

c.1449_1451delGGC

1 paper

NM_004630.4

p.P484del1

c.1450_1451delAGG

1 paper

NM_004630.4

p.P483_P484del2

c.1447_1451del6

1 paper

NM_004630.4

p.G487V

c.1460G>T

1 paper

NM_004630.4

p.Q488H

c.1464G>T

1 paper

NM_004630.4

p.Q488H

c.1464G>C

1 paper

NM_004630.4

p.P489insFs

c.1466_1467insC

1 paper

NM_004630.4

p.P493S

c.1477C>T