Varaico: Literature-Extracted Genetic Variants

LRRC8E

53 papers

RefSeq Summary

This gene encodes a member of a small, conserved family of proteins with similar structure, including a string of extracellular leucine-rich repeats. A related protein was shown to be involved in B-ce...

Pfam Domains

Pannexin_likeaa 1–331UCSCPannexin-like TM region of LRRC8

LRR_8aa 630–688UCSCLeucine rich repeat

LRR_8aa 676–734UCSCLeucine rich repeat

Gene Aliases

HGNC Name

leucine rich repeat containing 8 VRAC subunit E

HGNC Alias Symbol

FLJ23420

Papers

RefSeq ID

Protein change

DNA change

1–12 of 67 variants

4 papers

NM_025061.6

p.M190T

c.569T>C

3 papers

NM_025061.6

p.E181G

c.542A>G

2 papers

NM_025061.6

p.R257*

c.769C>T

2 papers

NM_025061.6

p.D484E

c.1452C>A

2 papers

NM_025061.6

p.D484E

c.1452C>G

1 paper

NM_025061.6

p.M1K

c.2T>A

1 paper

NM_025061.6

p.I2T

c.5T>C

1 paper

NM_025061.6

p.E6A

c.17A>C

1 paper

NM_025061.6

p.E12Q

c.34G>C

1 paper

NM_025061.6

p.P15A

c.43C>G

1 paper

NM_025061.6

p.A16V

c.47C>T

1 paper

NM_025061.6

p.G42S

c.124G>A