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.V47D

c.140T>A

Surrounding Variants

1 paper

NM_019594.4

p.T48N

c.143C>A

1 paper

NM_019594.4

p.T44R

c.131C>G

1 paper

NM_019594.4

p.F41V

c.121T>G

1 paper

NM_019594.4

p.V40D

c.119T>A

1 paper

NM_019594.4

p.S64_D67delFs

c.192_199del8

1 paper

NM_019594.4

p.A74S

c.220G>T

1 paper

NM_019594.4

p.P77R

c.230C>G

1 paper

NM_019594.4

p.P77P

c.231G>A

1 paper

NM_019594.4

p.P15A

c.43C>G

1 paper

NM_019594.4

p.Y9C

c.26A>G

2 papers

NM_019594.4

p.R8C

c.22C>T

3 papers

NM_019594.4

p.E6A

c.17A>C