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.D1031A

c.3092A>C

Surrounding Variants

1 paper

NM_017662.5

p.E1029A

c.3086A>C

1 paper

NM_017662.5

p.E1029Q

c.3085G>C

2 papers

NM_017662.5

p.E1024Q

c.3070G>C

10 papers

NM_017662.5

p.P1017R

c.3050C>G

1 paper

NM_017662.5

p.R1011*

c.3031C>T

3 papers

NM_017662.5

p.S1000insFs

c.2998dupT

1 paper

NM_017662.5

p.S1000fs

c.2998_2999fs

1 paper

NM_017662.5

p.R995insFs

c.2983dupC

1 paper

NM_017662.5

p.V993M

c.2977G>A

1 paper

NM_017662.5

p.S990R

c.2970C>G

1 paper

NM_017662.5

p.S990R

c.2970C>A

1 paper

NM_017662.5

p.S990I

c.2969G>T