Varaico: Literature-Extracted Genetic Variants

MAP3K7

372 papers

RefSeq Summary

The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase mediates the signaling transduction induced by TGF beta and morphogenetic protein (BMP), and con...

Pfam Domains

PK_Tyr_Ser-Thraa 36–284UCSCProtein tyrosine and serine/threonine kinase

Map3k7claa 513–605UCSCMAP3K7 C-terminal-like protein

Gene Aliases

HGNC Name

mitogen-activated protein kinase kinase kinase 7

HGNC Previous Symbol

TAK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_145331.3

p.I280T

c.839T>C

Surrounding Variants

1 paper

NM_145331.3

p.P275delFs

c.824delG

1 paper

NM_145331.3

p.P275fs

c.823_824fs

1 paper

NM_145331.3

p.R274L

c.821G>T

1 paper

NM_145331.3

p.P271S

c.811C>T

1 paper

NM_145331.3

p.K257K

c.771G>A

1 paper

NM_145331.3

p.P256S

c.766C>T

1 paper

NM_145331.3

p.L255V

c.763T>G

1 paper

NM_145331.3

p.N254H

c.760A>C

2 papers

NM_145331.3

p.R248Q

c.743G>A

7 papers

NM_145331.3

p.G246Splc

c.737-7A>G

3 papers

NM_145331.3

p.G246ins2

c.736_737ins6

1 paper

NM_145331.3

p.W241G

c.721T>G