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.G372del1

c.1114_1116delGCC

Surrounding Variants

2 papers

NM_004630.4

p.G372V

c.1115G>T

1 paper

NM_004630.4

p.E375D

c.1125G>C

1 paper

NM_004630.4

p.G372_E375delFs

c.1115_1125del11

1 paper

NM_004630.4

p.P367L

c.1100C>T

1 paper

NM_004630.4

p.P367A

c.1099C>G

2 papers

NM_004630.4

p.H380Y

c.1138C>T

1 paper

NM_004630.4

p.P366T

c.1096C>A

1 paper

NM_004630.4

p.R365P

c.1094G>C

1 paper

NM_004630.4

p.R365H

c.1094G>A

1 paper

NM_004630.4

p.R365S

c.1093C>A

1 paper

NM_004630.4

p.M359_Q363del0

c.1075_1089del15

1 paper

NM_004630.4

p.Q363K

c.1087C>A