Varaico: Literature-Extracted Genetic Variants

Gene:UHMK1
Variant:p.Y93_G94delFs

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
Selected Variant
1 paper
NM_175866.5
p.Y93_G94delFs
c.278_281del4
Surrounding Variants
1 paper
NM_175866.5
p.V104V
c.312G>A
1 paper
NM_175866.5
p.S117I
c.350G>T
1 paper
NM_175866.5
p.L122L
c.366C>T
1 paper
NM_175866.5
p.M132R
c.395T>G
1 paper
NM_175866.5
p.Q136*
c.406C>T
1 paper
NM_175866.5
p.A147V
c.440C>T
1 paper
NM_175866.5
p.R162H
c.485G>A
1 paper
NM_175866.5
p.I164R
c.491T>G
1 paper
NM_175866.5
p.A168_E169delFs
c.502_505del4
1 paper
NM_175866.5
p.A168fs
c.502_503fs
1 paper
NM_175866.5
p.I192_Q193delFs
c.576_577delTC
1 paper
NM_175866.5
p.E203K
c.607G>A
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