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.T290M

c.869C>T

Surrounding Variants

1 paper

NM_025061.6

p.T294M

c.881C>T

1 paper

NM_025061.6

p.I280I

c.840C>T

1 paper

NM_025061.6

p.N302I

c.905A>T

1 paper

NM_025061.6

p.Y276C

c.827A>G

1 paper

NM_025061.6

p.I317I

c.951C>T

2 papers

NM_025061.6

p.R257*

c.769C>T

1 paper

NM_025061.6

p.F335L

c.1003T>C

1 paper

NM_025061.6

p.F335L

c.1005C>A

1 paper

NM_025061.6

p.F335L

c.1005C>G

1 paper

NM_025061.6

p.M353T

c.1058T>C

1 paper

NM_025061.6

p.D224Y

c.670G>T

1 paper

NM_025061.6

p.V359I

c.1075G>A