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

4 papers

NM_032034.4

p.G418D

c.1253G>A

NM_001174089.2

p.G402D

c.1205G>A

Surrounding Variants

1 paper

NM_001174089.2

p.G402S

c.1204G>A

1 paper

NM_001174089.2

p.G401R

c.1201G>C

1 paper

NM_001174089.2

p.G401R

c.1201G>A

1 paper

NM_001174089.2

p.S399delFs

c.1197delG

2 papers

NM_032034.4

p.S415N

c.1244G>A

NM_001174089.2

p.S399N

c.1196G>A

2 papers

NM_001174089.2

p.Y405Y

c.1215C>T

1 paper

NM_001174089.2

p.Y405*

c.1215C>G

1 paper

NM_001174089.2

p.S399fs

c.1195_1196fs

1 paper

NM_001174089.2

p.A406T

c.1216G>A

5 papers

NM_032034.4

p.G413R

c.1237G>C

NM_001174089.2

p.G397R

c.1189G>C

5 papers

NM_032034.4

p.G413R

c.1237G>A

NM_001174089.2

p.G397R

c.1189G>A

1 paper

NM_001174089.2

p.F408S

c.1223T>C