Varaico: Literature-Extracted Genetic Variants

MAP3K20

136 papers

RefSeq Summary

This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha mot...

Pfam Domains

PK_Tyr_Ser-Thraa 16–260UCSCProtein tyrosine and serine/threonine kinase

SAM_2aa 337–408UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

mitogen-activated protein kinase kinase kinase 20

HGNC Alias Symbols

MLTKalpha; MLTKbeta; ZAK; MLTK; MLK7; MRK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016653.3

p.H528delFs

c.1582delC

Surrounding Variants

1 paper

NM_016653.3

p.S531*

c.1592C>A

1 paper

NM_016653.3

p.S531W

c.1592C>G

6 papers

NM_016653.3

p.S531L

c.1592C>T

1 paper

NM_016653.3

p.V520I

c.1558G>A

1 paper

NM_016653.3

p.Q540*

c.1618C>T

2 papers

NM_016653.3

p.E517_S518Splc

c.1552-10G>A

4 papers

NM_016653.3

p.Q547L

c.1640A>T

1 paper

NM_016653.3

p.D566N

c.1696G>A

1 paper

NM_016653.3

p.S568C

c.1702A>T

1 paper

NM_016653.3

p.D570H

c.1708G>C

2 papers

NM_016653.3

p.R580W

c.1738C>T

1 paper

NM_016653.3

p.G607V

c.1820G>T