Varaico: Literature-Extracted Genetic Variants

Gene:UHMK1
Variant:p.R278_I281del4

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.R278_I281del4
c.832_842del12
Surrounding Variants
1 paper
NM_175866.5
p.A266_V267delFs
c.798_799delAG
1 paper
NM_175866.5
p.A266fs
c.796_797fs
1 paper
NM_175866.5
p.S237*
c.710C>A
1 paper
NM_175866.5
p.I231V
c.691A>G
1 paper
NM_175866.5
p.G212G
c.636C>T
1 paper
NM_175866.5
p.Q205R
c.614A>G
1 paper
NM_175866.5
p.E203K
c.607G>A
1 paper
NM_175866.5
p.I192_Q193delFs
c.576_577delTC
1 paper
NM_175866.5
p.A168fs
c.502_503fs
1 paper
NM_175866.5
p.A168_E169delFs
c.502_505del4
1 paper
NM_175866.5
p.I164R
c.491T>G
1 paper
NM_175866.5
p.R162H
c.485G>A
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