Varaico: Literature-Extracted Genetic Variants

MAPKBP1

78 papers

RefSeq Summary

This gene encodes a scaffold protein that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing protein 2) signaling pathways. The encoded protein ...

Pfam Domains

WD40_MABP1-WDR62_1staa 53–386UCSCMABP1/WDR62 first WD40 domain

WD40_MABP1-WDR62_2ndaa 392–732UCSCMABP1/WDR62 second WD40 domain

WDR62-MABP1_CCaa 1410–1509UCSCWRD62/MABP1 coiled-coil

Gene Aliases

HGNC Name

mitogen-activated protein kinase binding protein 1

HGNC Alias Symbols

KIAA0596; NPHP20

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_014994.3

p.S438N

c.1313G>A

Surrounding Variants

1 paper

NM_001128608.2

p.R440*

c.1318C>T

1 paper

NM_014994.3

p.S407F

c.1220C>T

1 paper

NM_014994.3

p.S439_D440Splc

c.1318-2A>C

1 paper

NM_014994.3

p.Y446C

c.1337A>G

1 paper

NM_014994.3

p.S478L

c.1433C>T

1 paper

NM_014994.3

p.H487R

c.1460A>G

1 paper

NM_014994.3

p.V386I

c.1156G>A

1 paper

NM_014994.3

p.S378S

c.1134G>T

1 paper

NM_014994.3

p.D347N

c.1039G>A

1 paper

NM_014994.3

p.A334V

c.1001C>T

1 paper

NM_014994.3

p.V511M

c.1531G>A

1 paper

NM_014994.3

p.G529G

c.1587T>A