Varaico: Literature-Extracted Genetic Variants

OTOL1

46 papers

RefSeq Summary

This gene encodes a secreted glycoprotein with a C-terminal complement Cq1-like globular domain that belongs to the C1q/tumor necrosis factor-related protein (CTRP) family. The encoded protein is expr...

Pfam Domains

Collagenaa 107–163UCSCCollagen triple helix repeat (20 copies)

Collagenaa 233–303UCSCCollagen triple helix repeat (20 copies)

Collagenaa 278–339UCSCCollagen triple helix repeat (20 copies)

C1qaa 344–467UCSCC1q domain

Gene Aliases

HGNC Name

otolin 1

HGNC Alias Symbols

C1QTNF15; C1QTNF16

Papers

RefSeq ID

Protein change

DNA change

1–12 of 64 variants

6 papers

NM_001080440.1

p.E470A

c.1409A>C

2 papers

NM_001080440.1

p.R157C

c.469C>T

1 paper

NM_001080440.1

p.W6*

c.17G>A

1 paper

NM_001080440.1

p.W6*

c.18G>A

1 paper

NM_001080440.1

p.I10L

c.28A>C

1 paper

NM_001080440.1

p.T32M

c.95C>T

1 paper

NM_001080440.1

p.K42K

c.126G>A

1 paper

NM_001080440.1

p.V78I

c.232G>A

1 paper

NM_001080440.1

p.L84F

c.250C>T

1 paper

NM_001080440.1

p.D96G

c.287A>G

1 paper

NM_001080440.1

p.L99S

c.296T>C

1 paper

NM_001080440.1

p.N100K

c.300T>A