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

1–12 of 136 variants

6 papers

NM_016653.3

p.S531L

c.1592C>T

5 papers

NM_016653.3

p.F368C

c.1103T>G

4 papers

NM_016653.3

p.I94insFs

c.280_281insT

4 papers

NM_016653.3

p.Q547L

c.1640A>T

3 papers

NM_016653.3

p.N21D

c.61A>G

3 papers

NM_016653.3

p.K45M

c.134A>T

3 papers

NM_016653.3

p.M164delFs

c.490_491delAT

3 papers

NM_016653.3

p.M164fs

c.490_491fs

3 papers

NM_016653.3

p.W172*

c.515G>A

3 papers

NM_016653.3

p.W172*

c.516G>A

3 papers

NM_016653.3

p.T267M

c.800C>T

3 papers

NM_016653.3

p.N279_K280del1

c.837_839delCAA