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.E235D

c.705G>T

Surrounding Variants

1 paper

NM_005921.2

p.E235D

c.705G>C

17 papers

NM_005921.2

p.Q237R

c.710A>G

1 paper

NM_005921.2

p.P233fs

c.697_698fs

1 paper

NM_005921.2

p.P233S

c.697C>T

1 paper

NM_005921.2

p.A238V

c.713C>T

1 paper

NM_005921.2

p.P233fs

c.697_698fs

1 paper

NM_005921.2

p.A238A

c.714A>T

1 paper

NM_005921.2

p.S239R

c.715A>C

1 paper

NM_005921.2

p.S239R

c.717T>A

1 paper

NM_005921.2

p.S239R

c.717T>G

1 paper

NM_005921.2

p.A240T

c.718G>A

1 paper

NM_005921.2

p.A240V

c.719C>T