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.V638V

c.1914G>A

Surrounding Variants

1 paper

NM_001384474.1

p.V638G

c.1913T>G

1 paper

NM_001384474.1

p.L639L

c.1915C>T

1 paper

NM_001384474.1

p.V638M

c.1912G>A

11 papers

NM_001384474.1

p.L635P

c.1904T>C

5 papers

NM_001384474.1

p.G632C

c.1894G>T

2 papers

NM_001384474.1

p.G632S

c.1894G>A

1 paper

NM_001384474.1

p.Q645H

c.1935G>T

1 paper

NM_001384474.1

p.S631S

c.1893C>T

1 paper

NM_001384474.1

p.G630V

c.1889G>T

3 papers

NM_001384474.1

p.G630S

c.1888G>A

1 paper

NM_001384474.1

p.S648S

c.1944C>T

1 paper

NM_001384474.1

p.G628V

c.1883G>T