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.D1520E

c.4560C>G

Surrounding Variants

1 paper

NM_001384474.1

p.D1520E

c.4560C>A

1 paper

NM_001384474.1

p.G1522V

c.4565G>T

1 paper

NM_001384474.1

p.A1519T

c.4555G>A

1 paper

NM_001384474.1

p.E1517K

c.4549G>A

2 papers

NM_001384474.1

p.R1530C

c.4588C>T

1 paper

NM_001384474.1

p.R1530H

c.4589G>A

1 paper

NM_001384474.1

p.T1510_A1511Splc

c.4531-2A>T

1 paper

NM_001145472.3

p.S423fs

c.1267_1268fs

NM_001384474.1

p.S1534fs

c.4600_4601fs

2 papers

NM_001145472.3

p.S423delFs

c.1267_1268delGA

NM_001384474.1

p.S1534delFs

c.4600_4601delGA

1 paper

NM_001384474.1

p.D1532_K1535delFs

c.4595_4605del11

1 paper

NM_001384474.1

p.C1537C

c.4611C>T

1 paper

NM_001384474.1

p.C1537_A1538del2

c.4609_4613del6