Varaico: Literature-Extracted Genetic Variants

TRPM7

246 papers

RefSeq Summary

This gene belongs to the melastatin subfamily of transient receptor potential family of ion channels. The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The...

Pfam Domains

LSDAT_eukaa 106–371UCSCSLOG in TRPM

TRPM2aa 426–569UCSCTRPM2-like domain

TRPM2aa 542–736UCSCTRPM2-like domain

YVC1_Caa 862–1152UCSCCalcium channel YVC1-like, C-terminal

TRPM_tetraaa 1194–1249UCSCTetramerisation domain of TRPM

Alpha_kinaseaa 1619–1816UCSCAlpha-kinase family

Gene Aliases

HGNC Name

transient receptor potential cation channel subfamily M member 7

HGNC Alias Symbols

CHAK1; LTRPC7; TRP-PLIK

Papers

RefSeq ID

Protein change

DNA change

1–12 of 354 variants

28 papers

NM_017672.6

p.T1482I

c.4445C>T

9 papers

NM_017672.6

p.E1047Q

c.3139G>C

8 papers

NM_017672.6

p.K1648R

c.4943A>G

5 papers

NM_017672.6

p.R194T

c.581G>C

5 papers

NM_017672.6

p.L241V

c.721C>G

5 papers

NM_017672.6

p.C721G

c.2161T>G

5 papers

NM_017672.6

p.A931T

c.2791G>A

5 papers

NM_017672.6

p.D1054A

c.3161A>C

4 papers

NM_017672.6

p.G1046D

c.3137G>A

4 papers

NM_017672.6

p.K1112Q

c.3334A>C

3 papers

NM_017672.6

p.C16Y

c.47G>A

3 papers

NM_017672.6

p.D90A

c.269A>C