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.L639L

c.1915C>T

Surrounding Variants

8 papers

NM_005921.2

p.L639P

c.1916T>C

4 papers

NM_005921.2

p.V638I

c.1912G>A

3 papers

NM_005921.2

p.S640*

c.1919C>A

3 papers

NM_005921.2

p.S640*

c.1919C>G

1 paper

NM_005921.2

p.M641delFs

c.1921delA

1 paper

NM_005921.2

p.M641fs

c.1921_1922fs

2 papers

NM_005921.2

p.M641V

c.1921A>G

1 paper

NM_005921.2

p.S637fs

c.1909_1910fs

1 paper

NM_005921.2

p.S637insFs

c.1909dupA

2 papers

NM_005921.2

p.M641I

c.1923G>A

2 papers

NM_005921.2

p.M641I

c.1923G>C

1 paper

NM_005921.2

p.C636ins1

c.1907_1908insAGA