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.I980S

c.2939T>G

Surrounding Variants

2 papers

NM_017662.5

p.F978L

c.2934C>G

1 paper

NM_017662.5

p.F978L

c.2934C>A

1 paper

NM_017662.5

p.F978_Y979insT

c.2932_2936ins3

1 paper

NM_017662.5

p.F978L

c.2932T>C

1 paper

NM_017662.5

p.I983T

c.2948T>C

1 paper

NM_017662.5

p.A985P

c.2953G>C

1 paper

NM_017662.5

p.I986K

c.2957T>A

1 paper

NM_017662.5

p.T974_A975insA

c.2920_2924ins3

1 paper

NM_017662.5

p.S990R

c.2968A>C

1 paper

NM_017662.5

p.S990I

c.2969G>T

1 paper

NM_017662.5

p.S990R

c.2970C>G

1 paper

NM_017662.5

p.S990R

c.2970C>A