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

2 papers

NM_032034.4

p.W240*

c.719G>A

NM_001174089.2

p.W224*

c.671G>A

Surrounding Variants

3 papers

NM_032034.4

p.W240S

c.719G>C

NM_001174089.2

p.W224S

c.671G>C

2 papers

NM_032034.4

p.W240*

c.720G>A

NM_001174089.2

p.W224*

c.672G>A

1 paper

NM_001174089.2

p.G225fs

c.673_674fs

1 paper

NM_001174089.2

p.C214_V219insFs

c.640_656dup17

1 paper

NM_001174089.2

p.C214_V219delFs

c.640_656del17

1 paper

NM_001174089.2

p.L218delFs

c.652_653delAG

2 papers

NM_032034.4

p.R233L

c.698G>T

NM_001174089.2

p.R217L

c.650G>T

3 papers

NM_032034.4

p.R233C

c.697C>T

NM_001174089.2

p.R217C

c.649C>T

4 papers

NM_001174089.2

p.R232Q

c.695G>A

NM_032034.4

p.R248Q

c.743G>A

3 papers

NM_032034.4

p.S232N

c.695G>A

NM_001174089.2

p.S216N

c.647G>A

1 paper

NM_032034.4

p.V250F

c.748G>T

1 paper

NM_001174089.2

p.C214Y

c.641G>A