Varaico: Literature-Extracted Genetic Variants

COL16A1

152 papers

RefSeq Summary

This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in assoc...

Pfam Domains

Collagenaa 371–427UCSCCollagen triple helix repeat (20 copies)

Collagenaa 571–635UCSCCollagen triple helix repeat (20 copies)

Collagenaa 666–726UCSCCollagen triple helix repeat (20 copies)

Collagenaa 786–842UCSCCollagen triple helix repeat (20 copies)

Collagenaa 1008–1071UCSCCollagen triple helix repeat (20 copies)

Collagenaa 1054–1126UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type XVI alpha 1 chain

HGNC Previous Name

collagen, type XVI, alpha 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001856.4

p.P1026L

c.3077C>T

Surrounding Variants

1 paper

NM_001856.4

p.G1021G

c.3063C>A

1 paper

NM_001856.4

p.G1033R

c.3097G>C

1 paper

NM_001856.4

p.G1033R

c.3097G>A

1 paper

NM_001856.4

p.G1033del1

c.3097_3098delTCC

1 paper

NM_001856.4

p.P1014L

c.3041C>T

1 paper

NM_001856.4

p.G1012V

c.3035G>T

1 paper

NM_001856.4

p.R1006W

c.3016C>T

1 paper

NM_001856.4

p.E1003K

c.3007G>A

1 paper

NM_001856.4

p.Q992fs

c.2974_2975fs

1 paper

NM_001856.4

p.Q992delFs

c.2974delG

1 paper

NM_001856.4

p.N989S

c.2966A>G

2 papers

NM_001856.4

p.C959C

c.2877T>C