Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A5
Variant:p.L162P

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.L162P
c.485T>C
Surrounding Variants
1 paper
NM_133478.3
p.S161N
c.482G>A
1 paper
NM_133478.3
p.P152_H153delFs
c.456_457delGG
1 paper
NM_133478.3
p.G172E
c.515G>A
1 paper
NM_133478.3
p.T173M
c.518C>T
1 paper
NM_133478.3
p.E147A
c.440A>C
1 paper
NM_133478.3
p.E143A
c.428A>C
1 paper
NM_133478.3
p.E140D
c.420A>T
1 paper
NM_133478.3
p.I186F
c.556A>T
1 paper
NM_133478.3
p.W135C
c.405G>T
1 paper
NM_133478.3
p.W135C
c.405G>C
1 paper
NM_133478.3
p.R134Splc
c.402-1G>T
1 paper
NM_133478.3
p.R217H
c.650G>A
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