Varaico: Literature-Extracted Genetic Variants

MAP3K1

899 papers

RefSeq Summary

The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded...

Pfam Domains

SWIMaa 338–366UCSCSWIM zinc finger

TOG_MAP3K1aa 552–812UCSCMitogen-activated protein kinase kinase kinase 1, TOG domain

Pkinaseaa 1243–1508UCSCProtein kinase domain

Gene Aliases

HGNC Name

mitogen-activated protein kinase kinase kinase 1

HGNC Previous Symbol

MEKK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005921.2

p.G621W

c.1861G>T

Surrounding Variants

1 paper

NM_005921.2

p.G621V

c.1862G>T

1 paper

NM_005921.2

p.S622_Q624delFs

c.1864_1871del8

1 paper

NM_005921.2

p.S622fs

c.1864_1865fs

1 paper

NM_005921.2

p.S622S

c.1866T>C

1 paper

NM_005921.2

p.S623delFs

c.1868delC

1 paper

NM_005921.2

p.A618D

c.1853C>A

1 paper

NM_005921.2

p.Q624K

c.1870C>A

2 papers

NM_005921.2

p.Q624fs

c.1870_1871fs

2 papers

NM_005921.2

p.Q624E

c.1870C>G

1 paper

NM_005921.2

p.Q624*

c.1870C>T

1 paper

NM_005921.2

p.G617E

c.1850G>A

1 paper

NM_005921.2

p.Q624H

c.1872G>C