Varaico: Literature-Extracted Genetic Variants

COL26A1

35 papers

RefSeq Summary

This gene encodes a protein containing an emilin domain and two collagen stretches. This gene may be associated with aspirin-intolerant asthma. Alternatively spliced transcript variants encoding diffe...

Pfam Domains

EMIaa 53–123UCSCEMI domain

Collagenaa 194–274UCSCCollagen triple helix repeat (20 copies)

Collagenaa 302–361UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type XXVI alpha 1 chain

HGNC Previous Symbol

EMID2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 40 variants

2 papers

NM_001278563.3

p.R251H

c.752G>A

2 papers

NM_001278563.3

p.G413fs

c.1237_1238fs

2 papers

NM_001278563.3

p.A415T

c.1243G>A

1 paper

NM_001278563.3

p.A20V

c.59C>T

1 paper

NM_001278563.3

p.A30A

c.90A>T

1 paper

NM_001278563.3

p.P40P

c.120C>A

1 paper

NM_001278563.3

p.R53Splc

c.159-5436A>G

1 paper

NM_001278563.3

p.H58L

c.173A>T

1 paper

NM_001278563.3

p.T59I

c.176C>T

1 paper

NM_001278563.3

p.R62W

c.184C>T

1 paper

NM_001278563.3

p.R78S

c.232C>A

1 paper

NM_001278563.3

p.P86L

c.257C>T