Varaico: Literature-Extracted Genetic Variants

TGFBI

622 papers

RefSeq Summary

This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand reco...

Pfam Domains

Fasciclinaa 114–238UCSCFasciclin domain

Fasciclinaa 251–373UCSCFasciclin domain

Fasciclinaa 386–500UCSCFasciclin domain

Fasciclinaa 513–634UCSCFasciclin domain

Gene Aliases

HGNC Name

transforming growth factor beta induced

HGNC Previous Symbols

CSD3; LCD1; CSD1; CSD2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000358.3

p.P152P

c.456A>T

Surrounding Variants

1 paper

NM_000358.3

p.P152L

c.455C>T

1 paper

NM_000358.3

p.P152S

c.454C>T

1 paper

NM_000358.3

p.A153_E154Splc

c.459+6A>G

1 paper

NM_000358.3

p.A149V

c.446C>T

1 paper

NM_000358.3

p.A147T

c.439G>A

4 papers

NM_000358.3

p.S144R

c.432C>A

5 papers

NM_000358.3

p.S144R

c.432C>G

4 papers

NM_000358.3

p.S144R

c.430A>C

1 paper

NM_000358.3

p.F141L

c.423C>A

1 paper

NM_000358.3

p.F141L

c.423C>G

1 paper

NM_000358.3

p.F141F

c.423C>T

1 paper

NM_000358.3

p.F141L

c.421T>C