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.D453E

c.1359T>G

Surrounding Variants

1 paper

NM_003618.4

p.D453E

c.1359T>A

1 paper

NM_003618.4

p.E452K

c.1354G>A

1 paper

NM_003618.4

p.T451I

c.1352C>T

1 paper

NM_003618.4

p.G457*

c.1369G>T

1 paper

NM_003618.4

p.G457insFs

c.1369_1370ins2

1 paper

NM_003618.4

p.M448I

c.1344G>T

1 paper

NM_003618.4

p.M448I

c.1344G>C

1 paper

NM_003618.4

p.M448I

c.1344G>A

1 paper

NM_003618.4

p.I459M

c.1377C>G

1 paper

NM_001270425.2

p.C441S

c.1321T>A

1 paper

NM_001270425.2

p.C441S

c.1322G>C

1 paper

NM_003618.4

p.M464I

c.1392G>T