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

1–12 of 75 variants

3 papers

NM_019594.4

p.E6A

c.17A>C

3 papers

NM_019594.4

p.K98E

c.292A>G

2 papers

NM_019594.4

p.T5R

c.14C>G

2 papers

NM_019594.4

p.R8C

c.22C>T

2 papers

NM_019594.4

p.R545H

c.1634G>A

2 papers

NM_019594.4

p.I651T

c.1952T>C

1 paper

NM_019594.4

p.I2T

c.5T>C

1 paper

NM_019594.4

p.E6Q

c.16G>C

1 paper

NM_019594.4

p.Y9C

c.26A>G

1 paper

NM_019594.4

p.P15A

c.43C>G

1 paper

NM_019594.4

p.V40D

c.119T>A

1 paper

NM_019594.4

p.F41V

c.121T>G