Varaico: Literature-Extracted Genetic Variants

LRRC8E

53 papers

RefSeq Summary

This gene encodes a member of a small, conserved family of proteins with similar structure, including a string of extracellular leucine-rich repeats. A related protein was shown to be involved in B-ce...

Pfam Domains

Pannexin_likeaa 1–331UCSCPannexin-like TM region of LRRC8

LRR_8aa 630–688UCSCLeucine rich repeat

LRR_8aa 676–734UCSCLeucine rich repeat

Gene Aliases

HGNC Name

leucine rich repeat containing 8 VRAC subunit E

HGNC Alias Symbol

FLJ23420

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_025061.6

p.A643T

c.1927G>A

Surrounding Variants

1 paper

NM_025061.6

p.H639D

c.1915C>G

1 paper

NM_025061.6

p.N663del1

c.1987_1988delAAC

1 paper

NM_025061.6

p.G673S

c.2017G>A

1 paper

NM_025061.6

p.R679C

c.2035C>T

1 paper

NM_025061.6

p.L704fs

c.2110_2111fs

1 paper

NM_025061.6

p.P715T

c.2143C>A

1 paper

NM_025061.6

p.P715P

c.2145C>G

1 paper

NM_025061.6

p.N567N

c.1701C>T

1 paper

NM_025061.6

p.Q536K

c.1606C>A

1 paper

NM_025061.6

p.N755S

c.2264A>G

1 paper

NM_025061.6

p.L760V

c.2278C>G

1 paper

NM_025061.6

p.R524W

c.1570C>T