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.K129N

c.387A>T

Surrounding Variants

1 paper

NM_017662.5

p.K129N

c.387A>C

1 paper

NM_017662.5

p.L128F

c.384G>T

1 paper

NM_017662.5

p.L128F

c.384G>C

24 papers

NM_017662.5

p.S141L

c.422C>T

1 paper

NM_017662.5

p.D117N

c.349G>A

1 paper

NM_001177311.2

p.K124_G139del16

c.370_416del48

1 paper

NM_017662.5

p.Y111C

c.332A>G

1 paper

NM_017662.5

p.M151K

c.452T>A

9 papers

NM_017662.5

p.E157*

c.469G>T

1 paper

NM_017662.5

p.A166T

c.496G>A

2 papers

NM_017662.5

p.A167V

c.500C>T

5 papers

NM_017662.5

p.G171R

c.511G>C