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

1–12 of 269 variants

13 papers

NM_006785.4

p.W580S

c.1739G>C

12 papers

NM_006785.4

p.S89I

c.266G>T

8 papers

NM_006785.4

p.D184Y

c.550G>T

7 papers

NM_006785.4

p.A340Splc

c.1019-2A>G

6 papers

NM_006785.4

p.I600N

c.1799T>A

6 papers

NM_006785.4

p.E806D

c.2418G>C

6 papers

NM_006785.4

p.E806D

c.2418G>T

5 papers

NM_006785.4

p.Y353fs

c.1057_1058fs

4 papers

NM_006785.4

p.R217G

c.649A>G

4 papers

NM_006785.4

p.R354delFs

c.1060delC

4 papers

NM_006785.4

p.N485S

c.1454A>G

3 papers

NM_006785.4

p.L82P

c.245T>C