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

4 papers

NM_025061.6

p.M190T

c.569T>C

Surrounding Variants

1 paper

NM_025061.6

p.P195L

c.584C>T

1 paper

NM_025061.6

p.A184V

c.551C>T

3 papers

NM_025061.6

p.E181G

c.542A>G

1 paper

NM_025061.6

p.E172D

c.516G>C

1 paper

NM_025061.6

p.E172D

c.516G>T

1 paper

NM_025061.6

p.G171R

c.511G>A

1 paper

NM_025061.6

p.G171R

c.511G>C

1 paper

NM_025061.6

p.E211D

c.633G>C

1 paper

NM_025061.6

p.E211D

c.633G>T

1 paper

NM_025061.6

p.T215S

c.643A>T

1 paper

NM_025061.6

p.D224Y

c.670G>T

1 paper

NM_025061.6

p.S134N

c.401G>A