Varaico: Literature-Extracted Genetic Variants

TRPM6

285 papers

RefSeq Summary

This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an ...

Pfam Domains

LSDAT_eukaa 109–372UCSCSLOG in TRPM

TRPM2aa 427–571UCSCTRPM2-like domain

TRPM2aa 539–722UCSCTRPM2-like domain

YVC1_Caa 848–1104UCSCCalcium channel YVC1-like, C-terminal

TRPM_tetraaa 1170–1225UCSCTetramerisation domain of TRPM

Alpha_kinaseaa 1775–1972UCSCAlpha-kinase family

Gene Aliases

HGNC Name

transient receptor potential cation channel subfamily M member 6

HGNC Previous Symbol

HOMG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_017662.5

p.K589*

c.1765A>T

Surrounding Variants

11 papers

NM_017662.5

p.S590*

c.1769C>G

9 papers

NM_017662.5

p.S590*

c.1769C>A

2 papers

NM_017662.5

p.H584R

c.1751A>G

1 paper

NM_017662.5

p.E600K

c.1798G>A

1 paper

NM_017662.5

p.K577_E578Splc

c.1732-3C>G

1 paper

NM_017662.5

p.G603G

c.1809C>A

1 paper

NM_017662.5

p.Y608N

c.1822T>A

1 paper

NM_017662.5

p.Q621*

c.1861C>T

1 paper

NM_017662.5

p.M625I

c.1875G>T

1 paper

NM_017662.5

p.M625I

c.1875G>C

1 paper

NM_017662.5

p.M625I

c.1875G>A

1 paper

NM_017662.5

p.A641E

c.1922C>A