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

11 papers

NM_017662.5

p.K1584E

c.4750A>G

Surrounding Variants

1 paper

NM_017662.5

p.K1584N

c.4752G>T

1 paper

NM_017662.5

p.K1584N

c.4752G>C

1 paper

NM_017662.5

p.N1558Splc

c.4673-7C>T

3 papers

NM_017662.5

p.Y1533*

c.4599C>G

3 papers

NM_017662.5

p.Y1533*

c.4599C>A

1 paper

NM_017662.5

p.W1526*

c.4578G>A

3 papers

NM_017662.5

p.W1526*

c.4577G>A

1 paper

NM_017662.5

p.S1524F

c.4571C>T

1 paper

NM_017662.5

p.V1515E

c.4544T>A

1 paper

NM_017662.5

p.S1506A

c.4516T>G

1 paper

NM_017662.5

p.S1506T

c.4516T>A

1 paper

NM_017662.5

p.S1498F

c.4493C>T