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

3 papers

NM_017662.5

p.A399delFs

c.1196delG

Surrounding Variants

1 paper

NM_017662.5

p.I381R

c.1142T>G

1 paper

NM_017662.5

p.G403Splc

c.1208-1G>A

1 paper

NM_017662.5

p.H427fs

c.1279_1280fs

6 papers

NM_017662.5

p.H427delFs

c.1280delT

1 paper

NM_017662.5

p.I428I

c.1284C>T

1 paper

NM_017662.5

p.K436R

c.1307A>G

1 paper

NM_017662.5

p.K436_P437Splc

c.1308+1G>A

1 paper

NM_017662.5

p.K436_P437Splc

c.1308+7T>G

3 papers

NM_017662.5

p.C378_I379Splc

c.1134+5G>C

1 paper

NM_017662.5

p.C378_I379Splc

c.1134+1G>T

1 paper

NM_017662.5

p.M370L

c.1108A>T

1 paper

NM_017662.5

p.M370L

c.1108A>C