Varaico: Literature-Extracted Genetic Variants

COL11A1

589 papers

RefSeq Summary

This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 t...

Pfam Domains

Laminin_G_2aa 112–228UCSCLaminin G domain

Collagenaa 435–493UCSCCollagen triple helix repeat (20 copies)

Collagenaa 527–588UCSCCollagen triple helix repeat (20 copies)

Collagenaa 723–807UCSCCollagen triple helix repeat (20 copies)

Collagenaa 979–1050UCSCCollagen triple helix repeat (20 copies)

Collagenaa 1486–1545UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type XI alpha 1 chain

HGNC Previous Symbols

COLL6; DFNA37

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_001854.4

p.S415_I416Splc

c.1245+1G>A

Surrounding Variants

1 paper

NM_001854.4

p.S415_I416Splc

c.1245+1G>T

3 papers

NM_001854.4

p.S415_I416Splc

c.1245+2T>C

1 paper

NM_001854.4

p.S415R

c.1245C>G

1 paper

NM_001854.4

p.S415R

c.1245C>A

1 paper

NM_001854.4

p.S415N

c.1244G>A

1 paper

NM_001854.4

p.S415R

c.1243A>C

1 paper

NM_001854.4

p.T414K

c.1241C>A

1 paper

NM_001854.4

p.E413K

c.1237G>A

1 paper

NM_001854.4

p.I411V

c.1231A>G

1 paper

NM_001854.4

p.T409delFs

c.1227delA

1 paper

NM_001854.4

p.A407T

c.1219G>A

1 paper

NM_001854.4

p.P406delFs

c.1216_1217delGG