Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.S1098N

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
1 paper
NM_017636.4
p.S1098N
c.3293G>A
Surrounding Variants
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.S1098G
c.3292A>G
1 paper
NM_017636.4
p.Q1100K
c.3298C>A
1 paper
NM_017636.4
p.P1101T
c.3301C>A
2 papers
NM_017636.4
p.S1102A
c.3304T>G
1 paper
NM_017636.4
p.R1094delins
c.3280_3281delinsCC
2 papers
NM_017636.4
p.S1103F
c.3308C>T
2 papers
NM_017636.4
p.L1092F
c.3276G>C
2 papers
NM_017636.4
p.L1092F
c.3276G>T
1 paper
NM_017636.4
p.A1105V
c.3314C>T
2 papers
NM_017636.4
p.H1108R
c.3323A>G
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