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

2 papers

NM_006785.4

p.W580R

c.1738T>A

Surrounding Variants

2 papers

NM_006785.4

p.W580R

c.1738T>C

13 papers

NM_006785.4

p.W580S

c.1739G>C

1 paper

NM_006785.4

p.A581T

c.1741G>A

1 paper

NM_006785.4

p.A581V

c.1742C>T

1 paper

NM_006785.4

p.H584N

c.1750C>A

1 paper

NM_006785.4

p.S570C

c.1709C>G

1 paper

NM_006785.4

p.S555A

c.1663T>G

1 paper

NM_006785.4

p.R551L

c.1652G>T

2 papers

NM_006785.4

p.R551*

c.1651C>T

1 paper

NM_006785.4

p.E549A

c.1646A>C

1 paper

NM_006785.4

p.Q546R

c.1637A>G

1 paper

NM_006785.4

p.H540R

c.1619A>G