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.S398A

c.1192T>G

Surrounding Variants

1 paper

NM_003618.4

p.Q405H

c.1215G>T

1 paper

NM_003618.4

p.Q405H

c.1215G>C

1 paper

NM_003618.4

p.V409I

c.1225G>A

6 papers

NM_003618.4

p.A410T

c.1228G>A

1 paper

NM_003618.4

p.E413*

c.1237G>T

1 paper

NM_003618.4

p.D414H

c.1240G>C

1 paper

NM_003618.4

p.D415Y

c.1243G>T

1 paper

NM_003618.4

p.E421*

c.1261G>T

1 paper

NM_003618.4

p.H424Splc

c.1271+4A>G

1 paper

NM_003618.4

p.K430T

c.1289A>C

1 paper

NM_003618.4

p.P432S

c.1294C>T

1 paper

NM_003618.4

p.P434S

c.1300C>T