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.E626A

c.1877A>C

Surrounding Variants

1 paper

NM_001174089.2

p.E626G

c.1877A>G

1 paper

NM_001174089.2

p.M631K

c.1892T>A

4 papers

NM_001174089.2

p.A632S

c.1894G>T

1 paper

NM_001174089.2

p.S618_K619del2

c.1852_1856del6

1 paper

NM_032034.4

p.M633fs

c.1897_1898fs

1 paper

NM_032034.4

p.M633Splc

c.1898-1G>A

2 papers

NM_032034.4

p.M633Splc

c.1898-2A>C

NM_001174089.2

p.M617Splc

c.1850-2A>C

1 paper

NM_001174089.2

p.S638fs

c.1912_1913fs

1 paper

NM_001174089.2

p.S638S

c.1914C>T

1 paper

NM_001174089.2

p.S643S

c.1929C>T

1 paper

NM_001174089.2

p.M646I

c.1938G>C

2 papers

NM_001174089.2

p.M646I

c.1938G>A