Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.L1092F

TRPM4

286 papers

RefSeq Summary

The protein encoded by this gene is a calcium-activated nonselective ion channel that mediates transport of monovalent cations across membranes, thereby depolarizing the membrane. The activity of the ...

Pfam Domains

LSDAT_eukaa 88–351UCSCSLOG in TRPM
LSDAT_eukaa 88–351UCSCSLOG in TRPM
TRPM2aa 412–669UCSCTRPM2-like domain
TRPM2aa 412–669UCSCTRPM2-like domain
Ion_transaa 786–1055UCSCIon transport protein

Gene Aliases

HGNC Name

transient receptor potential cation channel subfamily M member 4

HGNC Alias Symbol

FLJ20041

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_017636.4
p.L1092F
c.3276G>C
Surrounding Variants
2 papers
NM_017636.4
p.L1092F
c.3276G>T
1 paper
NM_017636.4
p.R1094delins
c.3280_3281delinsCC
2 papers
NM_017636.4
p.S1098G
c.3292A>G
2 papers
NM_017636.4
p.L1087P
c.3260T>C
1 paper
NM_017636.4
p.S1098N
c.3293G>A
2 papers
NM_017636.4
p.S1098T
c.3293G>C
1 paper
NM_017636.4
p.S1098I
c.3293G>T
2 papers
NM_017636.4
p.R1086G
c.3256C>G
2 papers
NM_017636.4
p.L1085L
c.3255G>A
1 paper
NM_017636.4
p.Q1100K
c.3298C>A
1 paper
NM_017636.4
p.L1085W
c.3254T>G
1 paper
NM_017636.4
p.H1084Q
c.3252C>A
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