Varaico: Literature-Extracted Genetic Variants

COL3A1

870 papers

RefSeq Summary

This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequen...

Pfam Domains

VWCaa 32–88UCSCvon Willebrand factor type C domain

Collagenaa 474–533UCSCCollagen triple helix repeat (20 copies)

Collagenaa 532–593UCSCCollagen triple helix repeat (20 copies)

Collagenaa 957–1021UCSCCollagen triple helix repeat (20 copies)

Collagenaa 1077–1136UCSCCollagen triple helix repeat (20 copies)

Collagenaa 1137–1196UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type III alpha 1 chain

HGNC Previous Symbol

EDS4A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

16 papers

NM_000090.4

p.G252V

c.755G>T

Surrounding Variants

3 papers

NM_000090.4

p.G252D

c.755G>A

2 papers

NM_000090.4

p.G252S

c.754G>A

2 papers

NM_000090.4

p.G252R

c.754G>C

1 paper

NM_000090.4

p.G252fs

c.754_755fs

1 paper

NM_000090.4

p.P253S

c.757C>T

1 paper

NM_000090.4

p.I250Fs

c.750delinsAAFs

1 paper

NM_000090.4

p.I250M

c.750C>G

1 paper

NM_000090.4

p.K251delFs

c.753delA

1 paper

NM_000090.4

p.G255W

c.763G>T

5 papers

NM_000090.4

p.G255E

c.764G>A

2 papers

NM_000090.4

p.G249D

c.746G>A

6 papers

NM_000090.4

p.I256delFs

c.766delA