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.R1353*

c.4057C>T

Surrounding Variants

1 paper

NM_017662.5

p.K1352N

c.4056G>T

1 paper

NM_017662.5

p.K1352N

c.4056G>C

2 papers

NM_017662.5

p.K1352delFs

c.4055delT

1 paper

NM_017662.5

p.S1325C

c.3973A>T

1 paper

NM_017662.5

p.T1322I

c.3965C>T

1 paper

NM_017662.5

p.Q1320*

c.3958C>T

1 paper

NM_017662.5

p.V1313V

c.3939A>C

6 papers

NM_017662.5

p.V1393I

c.4177G>A

1 paper

NM_017662.5

p.R1308_E1309delFs

c.3924_3927del4

1 paper

NM_017662.5

p.E1309G

c.3926A>G

1 paper

NM_017662.5

p.E1309fs

c.3925_3926fs

2 papers

NM_017662.5

p.W1397*

c.4190G>A