Varaico: Literature-Extracted Genetic Variants

SLC4A11

168 papers

RefSeq Summary

This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been a...

Pfam Domains

HCO3_cotranspaa 324–393UCSCHCO3- transporter integral membrane domain

HCO3_cotranspaa 324–874UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 11

HGNC Previous Symbols

CHED2; CDPD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032034.4

p.G189G

c.567T>G

Surrounding Variants

1 paper

NM_001174090.2

p.R215P

c.644G>C

1 paper

NM_001174089.2

p.R172Q

c.515G>A

1 paper

NM_001174089.2

p.P170P

c.510C>G

1 paper

NM_001174090.2

p.P213L

c.638C>T

2 papers

NM_001174089.2

p.D166G

c.497A>G

1 paper

NM_001174089.2

p.M162I

c.486G>C

1 paper

NM_001174089.2

p.M162T

c.485T>C

1 paper

NM_001174089.2

p.M162K

c.485T>A

2 papers

NM_001174089.2

p.L158_M160delFs

c.473_480del8

2 papers

NM_001174089.2

p.L158_A161Fs

c.473_481delinsCFs

1 paper

NM_001174089.2

p.L159delFs

c.475_476delAG

1 paper

NM_001174089.2

p.L159fs

c.475_476fs