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

7 papers

NM_017662.5

p.T354P

c.1060A>C

Surrounding Variants

2 papers

NM_017662.5

p.M338I

c.1014G>T

2 papers

NM_017662.5

p.M338I

c.1014G>C

2 papers

NM_017662.5

p.M338I

c.1014G>A

1 paper

NM_017662.5

p.M370L

c.1108A>T

1 paper

NM_017662.5

p.M370L

c.1108A>C

1 paper

NM_017662.5

p.C378_I379Splc

c.1134+1G>T

3 papers

NM_017662.5

p.C378_I379Splc

c.1134+5G>C

1 paper

NM_017662.5

p.G337Splc

c.1010+29C>T

2 papers

NM_017662.5

p.G337Splc

c.1010+5G>C

1 paper

NM_017662.5

p.E336_G337insFs

c.1008_1009insT

1 paper

NM_017662.5

p.D335N

c.1003G>A

1 paper

NM_017662.5

p.L333V

c.997C>G