Varaico: Literature-Extracted Genetic Variants

Gene:UHMK1

UHMK1

49 papers

RefSeq Summary

The gene encodes a serine/threonine protein kinase that promotes cell cycle progression through G1 by phosphorylation of the cyclin-dependent kinase inhibitor 1B (p27Kip1), which causes nuclear export...

Pfam Domains

Pkinaseaa 23–304UCSCProtein kinase domain
RRM_1aa 344–400UCSCRNA recognition motif

Gene Aliases

HGNC Name

U2AF homology motif kinase 1

HGNC Alias Symbols

KIS; Kist

Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
3 papers
NM_175866.5
p.K54R
c.161A>G
2 papers
NM_175866.5
p.E337K
c.1009G>A
1 paper
NM_175866.5
p.A7A
c.21C>G
1 paper
NM_175866.5
p.E11G
c.32A>G
1 paper
NM_175866.5
p.R21W
c.61C>T
1 paper
NM_175866.5
p.R39Q
c.116G>A
1 paper
NM_175866.5
p.P49A
c.145C>G
1 paper
NM_175866.5
p.P50P
c.150C>A
1 paper
NM_175866.5
p.G51D
c.152G>A
1 paper
NM_175866.5
p.P59P
c.177A>G
1 paper
NM_175866.5
p.S67F
c.200C>T
1 paper
NM_175866.5
p.A68T
c.202G>A
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