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_001174089.2

p.R254C

c.760C>T

Surrounding Variants

1 paper

NM_001174089.2

p.R254H

c.761G>A

1 paper

NM_001174089.2

p.A253V

c.758C>T

1 paper

NM_001174089.2

p.A253T

c.757G>A

3 papers

NM_032034.4

p.T271M

c.812C>T

NM_001174089.2

p.T255M

c.764C>T

1 paper

NM_032034.4

p.M266_F272del0

c.797_814del18

2 papers

NM_032034.4

p.K263R

c.788A>G

NM_001174089.2

p.K247R

c.740A>G

2 papers

NM_032034.4

p.T262I

c.785C>T

NM_001174089.2

p.T246I

c.737C>T

1 paper

NM_001174089.2

p.K244E

c.730A>G

3 papers

NM_032034.4

p.R282P

c.845G>C

NM_001174089.2

p.R266P

c.797G>C

1 paper

NM_001174089.2

p.K268K

c.804G>A

1 paper

NM_001174089.2

p.E271fs

c.811_812fs

2 papers

NM_032034.4

p.E287_T288Fs

c.859_862delinsCCTFs

NM_001174089.2

p.E271_T272Fs

c.811_814delinsCCTFs