Varaico: Literature-Extracted Genetic Variants

MALT1

240 papers

RefSeq Summary

This gene encodes a caspase-like protease that plays a role in BCL10-induced activation of NF-kappaB. The protein is a component of the CARMA1-BCL10-MALT1 (CBM) signalosome that triggers NF-kappaB sig...

Pfam Domains

Ig_3aa 124–194UCSCImmunoglobulin domain

Ig_2aa 226–308UCSCImmunoglobulin domain

Peptidase_C14aa 342–559UCSCCaspase domain

MALT1_Igaa 583–719UCSCMALT1 Ig-like domain

Gene Aliases

HGNC Name

MALT1 paracaspase

HGNC Previous Symbol

MLT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_006785.4

p.R217G

c.649A>G

Surrounding Variants

1 paper

NM_006785.4

p.R217Splc

c.649+9C>T

1 paper

NM_006785.4

p.E213*

c.637G>T

2 papers

NM_006785.4

p.W203*

c.609G>A

1 paper

NM_006785.4

p.W203*

c.608G>A

1 paper

NM_006785.4

p.F196I

c.586T>A

1 paper

NM_006785.4

p.N194I

c.581A>T

1 paper

NM_006785.4

p.N193T

c.578A>C

1 paper

NM_006785.4

p.V192V

c.576T>A

1 paper

NM_006785.4

p.V192G

c.575T>G

1 paper

NM_006785.4

p.R191Q

c.572G>A

8 papers

NM_006785.4

p.D184Y

c.550G>T

1 paper

NM_006785.4

p.T172A

c.514A>G