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

1–12 of 544 variants

11 papers

NM_001174089.2

p.L755L

c.2263C>T

9 papers

NM_001174089.2

p.R109H

c.326G>A

8 papers

NM_032034.4

p.R605*

c.1813C>T

7 papers

NM_032034.4

p.R125H

c.374G>A

7 papers

NM_032034.4

p.S489L

c.1466C>T

7 papers

NM_032034.4

p.R755Q

c.2264G>A

6 papers

NM_001174089.2

p.R112C

c.334C>T

6 papers

NM_001174089.2

p.Q209*

c.625C>T

6 papers

NM_032034.4

p.E399K

c.1195G>A

6 papers

NM_001174089.2

p.P800S

c.2398C>T

6 papers

NM_032034.4

p.R869H

c.2606G>A

5 papers

NM_001174089.2

p.N150S

c.449A>G