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

2 papers

NM_019594.4

p.R545H

c.1634G>A

Surrounding Variants

1 paper

NM_019594.4

p.L546F

c.1636C>T

1 paper

NM_019594.4

p.R541W

c.1621C>T

1 paper

NM_019594.4

p.I537I

c.1611C>T

1 paper

NM_019594.4

p.A529V

c.1586C>T

1 paper

NM_019594.4

p.V567M

c.1699G>A

1 paper

NM_019594.4

p.K588E

c.1762A>G

1 paper

NM_019594.4

p.A481T

c.1441G>A

1 paper

NM_019594.4

p.D620G

c.1859A>G

1 paper

NM_019594.4

p.L621L

c.1863C>G

1 paper

NM_019594.4

p.P462_L468del7

c.1384_1403del21

1 paper

NM_019594.4

p.P457P

c.1371C>T

1 paper

NM_019594.4

p.I456T

c.1367T>C