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

5 papers

NM_017662.5

p.R1179Splc

c.3537-1G>A

Surrounding Variants

3 papers

NM_017662.5

p.Q1186*

c.3556C>T

1 paper

NM_017662.5

p.L1187P

c.3560T>C

1 paper

NM_017662.5

p.E1189K

c.3565G>A

1 paper

NM_017662.5

p.S1195S

c.3585T>C

1 paper

NM_017662.5

p.K1198N

c.3594G>T

1 paper

NM_017662.5

p.K1198N

c.3594G>C

1 paper

NM_017662.5

p.V1208M

c.3622G>A

1 paper

NM_017662.5

p.L1222M

c.3664C>A

1 paper

NM_017662.5

p.L1231fs

c.3691_3692fs

1 paper

NM_017662.5

p.Q1232delFs

c.3694delG

1 paper

NM_017662.5

p.L1231_E1233Fs

c.3693_3699delinsCTGCTGTTGACATCTGCTFs

1 paper

NM_017662.5

p.E1260fs

c.3778_3779fs