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.N353_V356del4

c.1057_1067del12

Surrounding Variants

1 paper

NM_001174089.2

p.G348G

c.1044C>T

2 papers

NM_032034.4

p.G364Splc

c.1091-1G>C

NM_001174089.2

p.G348Splc

c.1043-1G>C

4 papers

NM_032034.4

p.C386R

c.1156T>C

NM_001174089.2

p.C370R

c.1108T>C

1 paper

NM_001174089.2

p.C370*

c.1110C>A

1 paper

NM_032034.4

p.G364Splc

c.1091-15A>C

1 paper

NM_032034.4

p.G364Splc

c.1091-19T>C

1 paper

NM_001174089.2

p.I375delFs

c.1124delA

1 paper

NM_001174089.2

p.G378R

c.1132G>C

1 paper

NM_001174089.2

p.G378R

c.1132G>A

1 paper

NM_001174090.2

p.N424I

c.1271A>T

7 papers

NM_032034.4

p.E399K

c.1195G>A

NM_001174089.2

p.E383K

c.1147G>A

1 paper

NM_001174089.2

p.E383E

c.1149G>A