Varaico: Literature-Extracted Genetic Variants

Gene:MAK
Variant:p.N304fs

MAK

181 papers

RefSeq Summary

The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes d...

Pfam Domains

Pkinaseaa 4–284UCSCProtein kinase domain

Gene Aliases

HGNC Name

male germ cell associated kinase

HGNC Alias Symbols

dJ417M14.2; RP62

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001242957.3
p.N304fs
c.910_911fs
Surrounding Variants
1 paper
NM_001242957.3
p.N304_K305delFs
c.911_914del4
1 paper
NM_001242957.3
p.Q301*
c.901C>T
1 paper
NM_001242957.3
p.L307Q
c.920T>A
1 paper
NM_001242957.3
p.K300R
c.899A>G
1 paper
NM_001242957.3
p.Q308delFs
c.924delT
1 paper
NM_001242957.3
p.E311A
c.932A>C
1 paper
NM_001242957.3
p.P314L
c.941C>T
2 papers
NM_001242957.3
p.L316fs
c.946_947fs
1 paper
NM_001242957.3
p.G291D
c.872G>A
3 papers
NM_001242957.3
p.L316insFs
c.947dupT
1 paper
NM_001242957.3
p.L316fs
c.946_947fs
1 paper
NM_001242957.3
p.K322K
c.966G>A
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