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.R733C

c.2197C>T

Surrounding Variants

1 paper

NM_001384474.1

p.R733H

c.2198G>A

1 paper

NM_001384474.1

p.Y730Y

c.2190C>T

1 paper

NM_001384474.1

p.L727P

c.2180T>C

1 paper

NM_001384474.1

p.N725N

c.2175C>T

1 paper

NM_001384474.1

p.T743A

c.2227A>G

1 paper

NM_001384474.1

p.D714insFs

c.2140dupG

1 paper

NM_001384474.1

p.K712R

c.2135A>G

1 paper

NM_001384474.1

p.D694Y

c.2080G>T

3 papers

NM_001384474.1

p.G693R

c.2077G>A

1 paper

NM_001384474.1

p.Y686insFs

c.2057dupA

1 paper

NM_001384474.1

p.Y686C

c.2057A>G

4 papers

NM_001384474.1

p.R685H

c.2054G>A