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.N465N

c.1395C>T

Surrounding Variants

1 paper

NM_017662.5

p.K457N

c.1371G>T

1 paper

NM_017662.5

p.K457N

c.1371G>C

2 papers

NM_017662.5

p.R474*

c.1420C>T

1 paper

NM_017662.5

p.R474Q

c.1421G>A

1 paper

NM_017662.5

p.E476K

c.1426G>A

3 papers

NM_001177311.2

p.Y474C

c.1421A>G

NM_001177310.2

p.Y479C

c.1436A>G

4 papers

NM_017662.5

p.Y479*

c.1437C>G

6 papers

NM_017662.5

p.Y479*

c.1437C>A

3 papers

NM_017662.5

p.T481_K482Splc

c.1444-1G>T

1 paper

NM_017662.5

p.G484R

c.1450G>C

1 paper

NM_017662.5

p.G484R

c.1450G>A

2 papers

NM_017662.5

p.Q495*

c.1483C>T