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

Selected Variant

1 paper

NM_025061.6

p.C448S

c.1342T>A

Surrounding Variants

1 paper

NM_025061.6

p.C448S

c.1343G>C

1 paper

NM_025061.6

p.C424F

c.1271G>T

1 paper

NM_025061.6

p.A416A

c.1248G>A

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.P404T

c.1210C>A

1 paper

NM_025061.6

p.P404S

c.1210C>T

1 paper

NM_025061.6

p.W402*

c.1206G>A

1 paper

NM_025061.6

p.W402*

c.1205G>A

1 paper

NM_025061.6

p.S389S

c.1167C>T

1 paper

NM_025061.6

p.R524W

c.1570C>T

1 paper

NM_025061.6

p.Q536K

c.1606C>A