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

20 papers

NM_001384474.1

p.R1572*

c.4714C>T

NM_001145472.3

p.R461*

c.1381C>T

Surrounding Variants

1 paper

NM_001384474.1

p.R1572R

c.4714C>A

2 papers

NM_001384474.1

p.E1574K

c.4720G>A

5 papers

NM_001384474.1

p.Y1578*

c.4734C>G

NM_001145472.3

p.Y467*

c.1401C>G

4 papers

NM_001384474.1

p.Y1578*

c.4734C>A

NM_001145472.3

p.Y467*

c.1401C>A

1 paper

NM_001384474.1

p.L1564H

c.4691T>A

2 papers

NM_001384474.1

p.L1564F

c.4690C>T

7 papers

NM_001384474.1

p.C1560R

c.4678T>C

NM_001145472.3

p.C449R

c.1345T>C

2 papers

NM_001384474.1

p.K1580_E1581Splc

c.4740+21G>A

1 paper

NM_001384474.1

p.E1555*

c.4663G>T

1 paper

NM_001384474.1

p.D1554D

c.4662C>T

1 paper

NM_001384474.1

p.E1553K

c.4657G>A

1 paper

NM_001384474.1

p.I1547T

c.4640T>C