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.I276V

c.826A>G

Surrounding Variants

1 paper

NM_019594.4

p.I276T

c.827T>C

1 paper

NM_019594.4

p.D292D

c.876C>T

1 paper

NM_019594.4

p.K246T

c.737A>C

1 paper

NM_019594.4

p.F318Y

c.953T>A

1 paper

NM_019594.4

p.W342_M343delFs

c.1026_1029del4

1 paper

NM_019594.4

p.W342fs

c.1024_1025fs

1 paper

NM_019594.4

p.S199L

c.596C>T

1 paper

NM_019594.4

p.G192_S199del8

c.574_596del24

1 paper

NM_019594.4

p.Y362H

c.1084T>C

1 paper

NM_019594.4

p.Y362D

c.1084T>G

1 paper

NM_019594.4

p.K189E

c.565A>G

1 paper

NM_019594.4

p.S174*

c.521C>A