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

1 paper

NM_017662.5

p.F328L

c.984C>A

Surrounding Variants

1 paper

NM_017662.5

p.F328L

c.984C>G

1 paper

NM_017662.5

p.F328L

c.982T>C

1 paper

NM_017662.5

p.H330insFs

c.988_989insTT

1 paper

NM_017662.5

p.A327fs

c.979_980fs

1 paper

NM_017662.5

p.L326_A327insFs

c.978_979insT

1 paper

NM_017662.5

p.L326fs

c.976_977fs

1 paper

NM_017662.5

p.L325insFs

c.974_975insA

1 paper

NM_017662.5

p.L333V

c.997C>G

1 paper

NM_017662.5

p.D324A

c.971A>C

1 paper

NM_017662.5

p.D335N

c.1003G>A

1 paper

NM_017662.5

p.A322S

c.964G>T

1 paper

NM_017662.5

p.R321fs

c.961_962fs