Varaico: Literature-Extracted Genetic Variants

Gene:PAK6
Variant:p.R675*

PAK6

98 papers

RefSeq Summary

This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase do...

Gene Aliases

HGNC Name

p21 (RAC1) activated kinase 6

HGNC Previous Names

p21(CDKN1A)-activated kinase 6; p21 protein (Cdc42/Rac)-activated kinase 6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001395430.1
p.R675*
c.2023C>T
Surrounding Variants
1 paper
NM_001395430.1
p.R675Q
c.2024G>A
1 paper
NM_001395430.1
p.G662E
c.1985G>A
1 paper
NM_001395430.1
p.P656S
c.1966C>T
1 paper
NM_001276718.2
p.E600Q
c.1798G>C
1 paper
NM_001395430.1
p.L639Q
c.1916T>A
2 papers
NM_001395430.1
p.R637Q
c.1910G>A
1 paper
NM_001395430.1
p.L621R
c.1862T>G
1 paper
NM_001395430.1
p.P619T
c.1855C>A
1 paper
NM_001395430.1
p.P618delFs
c.1853delC
1 paper
NM_001395430.1
p.P600L
c.1799C>T
1 paper
NM_001395430.1
p.W585C
c.1755G>T
1 paper
NM_001395430.1
p.S576insFs
c.1727_1728insTT
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