Varaico: Literature-Extracted Genetic Variants

LRRC8A

68 papers

RefSeq Summary

This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-rece...

Pfam Domains

Pannexin_likeaa 1–340UCSCPannexin-like TM region of LRRC8

LRR_8aa 591–651UCSCLeucine rich repeat

LRR_14aa 678–781UCSCLeucine-rich repeat region

Gene Aliases

HGNC Name

leucine rich repeat containing 8 VRAC subunit A

HGNC Previous Symbol

LRRC8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_019594.4

p.D100A

c.299A>C

Surrounding Variants

1 paper

NM_019594.4

p.D100N

c.298G>A

1 paper

NM_019594.4

p.Y99N

c.295T>A

1 paper

NM_019594.4

p.K98N

c.294G>C

1 paper

NM_019594.4

p.K98N

c.294G>T

3 papers

NM_019594.4

p.K98E

c.292A>G

1 paper

NM_019594.4

p.P88L

c.263C>T

1 paper

NM_019594.4

p.C113Y

c.338G>A

1 paper

NM_019594.4

p.R117*

c.349C>T

1 paper

NM_019594.4

p.P77P

c.231G>A

1 paper

NM_019594.4

p.P77R

c.230C>G

1 paper

NM_019594.4

p.Y124F

c.371A>T

1 paper

NM_019594.4

p.P126L

c.377C>T