Varaico: Literature-Extracted Genetic Variants

COL4A3

777 papers

RefSeq Summary

Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, ...

Pfam Domains

Collagenaa 41–104UCSCCollagen triple helix repeat (20 copies)

Collagenaa 97–162UCSCCollagen triple helix repeat (20 copies)

Collagenaa 169–223UCSCCollagen triple helix repeat (20 copies)

Collagenaa 284–344UCSCCollagen triple helix repeat (20 copies)

Collagenaa 351–413UCSCCollagen triple helix repeat (20 copies)

Collagenaa 386–444UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type IV alpha 3 chain

HGNC Previous Name

collagen, type IV, alpha 3 (Goodpasture antigen)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000091.5

p.G145V

c.434G>T

Surrounding Variants

1 paper

NM_000091.5

p.G145fs

c.433_434fs

1 paper

NM_000091.5

p.P144_P147Fs

c.432_440delinsGATTAFs

1 paper

NM_000091.5

p.P147S

c.439C>T

2 papers

NM_000091.5

p.P147P

c.441G>A

1 paper

NM_000091.5

p.P147_G148Splc

c.441+2T>C

4 papers

NM_000091.5

p.G142S

c.424G>A

22 papers

NM_000091.5

p.L141P

c.422T>C

2 papers

NM_000091.5

p.G139E

c.416G>A

3 papers

NM_000091.5

p.G139R

c.415G>A

3 papers

NM_000091.5

p.G139R

c.415G>C

1 paper

NM_000091.5

p.G139delFs

c.417delG

1 paper

NM_000091.5

p.T140_I146del0

c.419_436del18