Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A5
Variant:p.N239Splc

SLC4A5

103 papers

RefSeq Summary

This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH reg...

Pfam Domains

Band_3_cytoaa 111–407UCSCBand 3 cytoplasmic domain
HCO3_cotranspaa 493–1074UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 5

HGNC Alias Symbol

NBC4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_133478.3
p.N239Splc
c.716-51G>A
Surrounding Variants
1 paper
NM_133478.3
p.G247C
c.739G>T
2 papers
NM_133478.3
p.S251N
c.752G>A
1 paper
NM_133478.3
p.T256M
c.767C>T
1 paper
NM_133478.3
p.G268R
c.802G>C
1 paper
NM_133478.3
p.G268R
c.802G>A
1 paper
NM_133478.3
p.R217H
c.650G>A
1 paper
NM_133478.3
p.R276T
c.827G>C
1 paper
NM_133478.3
p.I186F
c.556A>T
1 paper
NM_133478.3
p.T173M
c.518C>T
1 paper
NM_133478.3
p.G172E
c.515G>A
1 paper
NM_133478.3
p.L162P
c.485T>C
1 paper
NM_133478.3
p.S161N
c.482G>A
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