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

1–12 of 405 variants

24 papers

NM_017662.5

p.S141L

c.422C>T

11 papers

NM_017662.5

p.S590*

c.1769C>G

11 papers

NM_017662.5

p.K1584E

c.4750A>G

10 papers

NM_017662.5

p.P1017R

c.3050C>G

9 papers

NM_017662.5

p.E157*

c.469G>T

9 papers

NM_017662.5

p.S590*

c.1769C>A

7 papers

NM_017662.5

p.T354P

c.1060A>C

6 papers

NM_017662.5

p.H427delFs

c.1280delT

6 papers

NM_017662.5

p.Y479*

c.1437C>A

6 papers

NM_017662.5

p.K670Splc

c.2009+1G>A

6 papers

NM_017662.5

p.C707Y

c.2120G>A

6 papers

NM_017662.5

p.L708P

c.2123T>C