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.Q757delFs

c.2271delA

Surrounding Variants

1 paper

NM_014994.3

p.R746Q

c.2237G>A

1 paper

NM_014994.3

p.A739insFs

c.2215dupG

1 paper

NM_014994.3

p.P775L

c.2324C>T

1 paper

NM_014994.3

p.E786delFs

c.2358delA

1 paper

NM_014994.3

p.S706delFs

c.2117delG

2 papers

NM_014994.3

p.F705delFs

c.2115delT

1 paper

NM_014994.3

p.E698*

c.2092G>T

1 paper

NM_014994.3

p.G695delFs

c.2085delC

1 paper

NM_001128608.2

p.A815Splc

c.2444-1G>A

1 paper

NM_014994.3

p.A815P

c.2443G>C

1 paper

NM_014994.3

p.F682fs

c.2044_2045fs

1 paper

NM_014994.3

p.D676insFs

c.2028dupC