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.V613del1

c.1837_1838delGTT

Surrounding Variants

1 paper

NM_000358.3

p.P612S

c.1834C>T

15 papers

NM_000358.3

p.V613G

c.1838T>G

3 papers

NM_000358.3

p.V613_D617del0

c.1838_1849del12

1 paper

NM_000358.3

p.P616S

c.1846C>T

1 paper

NM_000358.3

p.V608L

c.1822G>C

1 paper

NM_000358.3

p.D617N

c.1849G>A

1 paper

NM_000358.3

p.D617A

c.1850A>C

1 paper

NM_000358.3

p.I618S

c.1853T>G

14 papers

NM_000358.3

p.M619K

c.1856T>A

11 papers

NM_000358.3

p.A620P

c.1858G>C

19 papers

NM_000358.3

p.A620D

c.1859C>A

9 papers

NM_000358.3

p.T621P

c.1861A>C