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

7 papers

NM_032034.4

p.R869H

c.2606G>A

NM_001174089.2

p.R853H

c.2558G>A

Surrounding Variants

6 papers

NM_032034.4

p.R869C

c.2605C>T

NM_001174089.2

p.R853C

c.2557C>T

1 paper

NM_001174089.2

p.L857P

c.2570T>C

2 papers

NM_032034.4

p.R875*

c.2623C>T

NM_001174089.2

p.R859*

c.2575C>T

4 papers

NM_001174089.2

p.P875S

c.2623C>T

1 paper

NM_001174089.2

p.R853Splc

c.2558+164G>A

2 papers

NM_032034.4

p.R869H

c.2606G>A

NM_001174089.2

p.R853H

c.2558G>A

4 papers

NM_032034.4

p.R869C

c.2605C>T

NM_001174089.2

p.R853C

c.2557C>T

1 paper

NM_001174089.2

p.M849I

c.2547G>C

1 paper

NM_001174089.2

p.P843del1

c.2527_2529delGGG

1 paper

NM_001174089.2

p.P843P

c.2529C>T

1 paper

NM_001174089.2

p.F830_I841del12

c.2488_2522del36

1 paper

NM_032034.4

p.I857M

c.2571C>G