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.Y750S

c.2249A>C

Surrounding Variants

1 paper

NM_006785.4

p.Y750*

c.2250T>A

1 paper

NM_006785.4

p.Y750*

c.2250T>G

1 paper

NM_006785.4

p.H762fs

c.2284_2285fs

1 paper

NM_006785.4

p.M732L

c.2194A>C

1 paper

NM_006785.4

p.M732L

c.2194A>T

1 paper

NM_006785.4

p.P773ins2

c.2318_2319ins6

1 paper

NM_006785.4

p.G720C

c.2158G>T

1 paper

NM_006785.4

p.T782_A794delFs

c.2344_2381del38

1 paper

NM_006785.4

p.T782I

c.2345C>T

1 paper

NM_006785.4

p.D784insFs

c.2351_2352insCC

1 paper

NM_006785.4

p.K714E

c.2140A>G

1 paper

NM_006785.4

p.I712V

c.2134A>G