Varaico: Literature-Extracted Genetic Variants

LOXHD1

333 papers

RefSeq Summary

This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in ...

Pfam Domains

PLATaa 3–86UCSCPLAT/LH2 domain

PLATaa 45–154UCSCPLAT/LH2 domain

PLATaa 174–286UCSCPLAT/LH2 domain

PLATaa 298–411UCSCPLAT/LH2 domain

Gene Aliases

HGNC Name

lipoxygenase homology PLAT domains 1

HGNC Previous Symbol

DFNB77

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001384474.1

p.S1592R

c.4776C>A

Surrounding Variants

1 paper

NM_001384474.1

p.S1592R

c.4776C>G

1 paper

NM_001384474.1

p.P1593S

c.4777C>T

1 paper

NM_001384474.1

p.S1592R

c.4774A>C

1 paper

NM_001145472.3

p.D474Y

c.1420G>T

1 paper

NM_001145472.3

p.G473R

c.1417G>A

1 paper

NM_001308013.2

p.S395N

c.1184G>A

1 paper

NM_001384474.1

p.K1580_E1581Splc

c.4741-1G>A

1 paper

NM_001384474.1

p.M1605R

c.4814T>G

2 papers

NM_001384474.1

p.M1605T

c.4814T>C

1 paper

NM_001145472.3

p.T501delFs

c.1501delT

1 paper

NM_001384474.1

p.G1615R

c.4843G>C

1 paper

NM_001384474.1

p.G1615R

c.4843G>A