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

26 papers

NM_000358.3

p.N622H

c.1864A>C

Surrounding Variants

1 paper

NM_000358.3

p.N622D

c.1864A>G

1 paper

NM_000358.3

p.G623_V627del0

c.1868_1879del12

22 papers

NM_000358.3

p.N622K

c.1866T>A

23 papers

NM_000358.3

p.N622K

c.1866T>G

9 papers

NM_000358.3

p.T621P

c.1861A>C

2 papers

NM_000358.3

p.G623S

c.1867G>A

10 papers

NM_000358.3

p.G623R

c.1867G>C

49 papers

NM_000358.3

p.G623D

c.1868G>A

3 papers

NM_000358.3

p.V624_V625del0

c.1870_1875del6

19 papers

NM_000358.3

p.A620D

c.1859C>A

22 papers

NM_000358.3

p.V624M

c.1870G>A

11 papers

NM_000358.3

p.A620P

c.1858G>C