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

1–12 of 106 variants

3 papers

NM_014994.3

p.R827W

c.2479C>T

3 papers

NM_014994.3

p.R1102C

c.3304C>T

2 papers

NM_014994.3

p.R198*

c.592C>T

2 papers

NM_014994.3

p.S438N

c.1313G>A

2 papers

NM_014994.3

p.F705delFs

c.2115delT

2 papers

NM_014994.3

p.Q757delFs

c.2271delA

2 papers

NM_014994.3

p.D1058H

c.3172G>C

1 paper

NM_014994.3

p.A65T

c.193G>A

1 paper

NM_014994.3

p.A68V

c.203C>T

1 paper

NM_014994.3

p.C70delFs

c.208delT

1 paper

NM_014994.3

p.F75L

c.223T>C

1 paper

NM_014994.3

p.F75L

c.225C>A