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

2 papers

NM_005921.2

p.G616W

c.1846G>T

Surrounding Variants

17 papers

NM_005921.2

p.G616R

c.1846G>A

17 papers

NM_005921.2

p.G616R

c.1846G>C

2 papers

NM_005921.2

p.G617fs

c.1849_1850fs

1 paper

NM_005921.2

p.G617*

c.1849G>T

1 paper

NM_005921.2

p.G617E

c.1850G>A

1 paper

NM_005921.2

p.P614P

c.1842G>C

1 paper

NM_005921.2

p.G617V

c.1850G>T

2 papers

NM_005921.2

p.P614L

c.1841C>T

1 paper

NM_005921.2

p.P614S

c.1840C>T

1 paper

NM_005921.2

p.A618D

c.1853C>A

1 paper

NM_005921.2

p.S612fs

c.1834_1835fs

1 paper

NM_005921.2

p.G621W

c.1861G>T