Varaico: Literature-Extracted Genetic Variants

MAP4K3

104 papers

RefSeq Summary

This gene encodes a member of the mitogen-activated protein kinase kinase kinase kinase family. The encoded protein activates key effectors in cell signalling, among them c-Jun. Alternatively spliced ...

Pfam Domains

Pkinaseaa 1–210UCSCProtein kinase domain

Pkinaseaa 16–273UCSCProtein kinase domain

CNHaa 571–863UCSCCNH domain

Gene Aliases

HGNC Name

mitogen-activated protein kinase kinase kinase kinase 3

HGNC Previous Symbol

RAB8IPL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003618.4

p.G123G

c.369A>T

Surrounding Variants

1 paper

NM_003618.4

p.G123R

c.367G>C

1 paper

NM_003618.4

p.G123R

c.367G>A

1 paper

NM_003618.4

p.Q122_G123Splc

c.367-1G>A

3 papers

NM_003618.4

p.Y125C

c.374A>G

1 paper

NM_003618.4

p.K132E

c.394A>G

1 paper

NM_003618.4

p.K132R

c.395A>G

1 paper

NM_003618.4

p.Q122K

c.364C>A

1 paper

NM_003618.4

p.T120fs

c.358_359fs

1 paper

NM_003618.4

p.E119Q

c.355G>C

1 paper

NM_003618.4

p.V104V

c.312A>G

1 paper

NM_003618.4

p.V104L

c.310G>T

1 paper

NM_003618.4

p.V104L

c.310G>C