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.D1058H

c.3172G>C

Surrounding Variants

1 paper

NM_014994.3

p.Q1061E

c.3181C>G

1 paper

NM_014994.3

p.A1078T

c.3232G>A

1 paper

NM_014994.3

p.E1084E

c.3252G>A

1 paper

NM_014994.3

p.I1091F

c.3271A>T

1 paper

NM_014994.3

p.D996G

c.2987A>G

3 papers

NM_014994.3

p.R1102C

c.3304C>T

1 paper

NM_001128608.2

p.R1111fs

c.3331_3332fs

1 paper

NM_014994.3

p.S981N

c.2942G>A

1 paper

NM_001128608.2

p.R1111Splc

c.3333-2A>G

1 paper

NM_001128608.2

p.E1112*

c.3334G>T

1 paper

NM_001128608.2

p.E1112fs

c.3334_3335fs

1 paper

NM_001128608.2

p.P1113fs

c.3337_3338fs