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.S743Y

c.2228C>A

Surrounding Variants

4 papers

NM_017662.5

p.R736delFs

c.2207delC

1 paper

NM_017662.5

p.R736fs

c.2206_2207fs

1 paper

NM_017662.5

p.R736M

c.2207G>T

1 paper

NM_017662.5

p.M732K

c.2195T>A

1 paper

NM_017662.5

p.L729fs

c.2185_2186fs

1 paper

NM_017662.5

p.M727K

c.2180T>A

1 paper

NM_017662.5

p.S721*

c.2162C>G

1 paper

NM_017662.5

p.G715_L716del2

c.2143_2147del6

1 paper

NM_017662.5

p.S713*

c.2138C>A

6 papers

NM_017662.5

p.L708P

c.2123T>C

6 papers

NM_017662.5

p.C707Y

c.2120G>A

1 paper

NM_017662.5

p.Y697F

c.2090A>T