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.D653G

c.1958A>G

Surrounding Variants

1 paper

NM_003618.4

p.D653N

c.1957G>A

1 paper

NM_003618.4

p.P652S

c.1954C>T

3 papers

NM_003618.4

p.K650R

c.1949A>G

1 paper

NM_003618.4

p.A648fs

c.1942_1943fs

1 paper

NM_003618.4

p.P647S

c.1939C>T

1 paper

NM_003618.4

p.P643S

c.1927C>T

1 paper

NM_003618.4

p.A636T

c.1906G>A

1 paper

NM_003618.4

p.D634Y

c.1900G>T

1 paper

NM_003618.4

p.D634H

c.1900G>C

1 paper

NM_003618.4

p.P630S

c.1888C>T

1 paper

NM_003618.4

p.L629*

c.1886T>G

1 paper

NM_003618.4

p.L629*

c.1886T>A