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

1 paper

NM_006785.4

p.L93V

c.277C>G

Surrounding Variants

1 paper

NM_006785.4

p.K94*

c.280A>T

12 papers

NM_006785.4

p.S89I

c.266G>T

1 paper

NM_006785.4

p.P88L

c.263C>T

1 paper

NM_006785.4

p.G100S

c.298G>A

2 papers

NM_006785.4

p.T104insFs

c.310dupA

3 papers

NM_006785.4

p.L82P

c.245T>C

2 papers

NM_006785.4

p.T104fs

c.310_311fs

1 paper

NM_006785.4

p.K80_L82ins1

c.239_244dup6

1 paper

NM_006785.4

p.D108Y

c.322G>T

1 paper

NM_006785.4

p.Q76L

c.227A>T

1 paper

NM_006785.4

p.L110delFs

c.329_330delTG

1 paper

NM_006785.4

p.E75A

c.224A>C