Varaico: Literature-Extracted Genetic Variants

TMPRSS6

243 papers

RefSeq Summary

The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the live...

Pfam Domains

SEAaa 86–187UCSCSEA domain

Ldl_recept_aaa 490–525UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 529–566UCSCLow-density lipoprotein receptor domain class A

Gene Aliases

HGNC Name

transmembrane serine protease 6

HGNC Alias Symbols

FLJ30744; MT2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001374504.1

p.R633C

c.1897C>T

Surrounding Variants

1 paper

NM_001374504.1

p.R633H

c.1898G>A

3 papers

NM_001374504.1

p.P635insFs

c.1904_1905dupCT

2 papers

NM_001374504.1

p.P635delFs

c.1905delA

1 paper

NM_001374504.1

p.Q630_N631insT

c.1888_1892ins3

5 papers

NM_001374504.1

p.G636insFs

c.1906_1907insGC

2 papers

NM_001374504.1

p.G636insFs

c.1907_1908insGC

1 paper

NM_001374504.1

p.E637Q

c.1909G>C

1 paper

NM_001374504.1

p.K627fs

c.1879_1880fs

1 paper

NM_001374504.1

p.S639T

c.1915T>A

2 papers

NM_001374504.1

p.G626insFs

c.1877_1878dupGC

1 paper

NM_001374504.1

p.G626D

c.1877G>A

1 paper

NM_001374504.1

p.W621_F624del0

c.1861_1872del12