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

2 papers

NM_032034.4

p.R488Splc

c.1463+97T>G

NM_001174089.2

p.R472Splc

c.1415+97T>G

Surrounding Variants

3 papers

NM_032034.4

p.R488K

c.1463G>A

NM_001174089.2

p.R472K

c.1415G>A

2 papers

NM_032034.4

p.L473_S480del8

c.1417_1439del24

2 papers

NM_032034.4

p.S480I

c.1439G>T

NM_001174089.2

p.S464I

c.1391G>T

5 papers

NM_001174089.2

p.S464N

c.1391G>A

2 papers

NM_032034.4

p.L479del1

c.1435_1436delGAG

NM_001174089.2

p.N478_L479del1

c.1434_1436delAGG

1 paper

NM_001174089.2

p.F461L

c.1383C>G

1 paper

NM_001174089.2

p.F461L

c.1383C>A

1 paper

NM_001174089.2

p.F460_F461delFs

c.1378_1381del4

1 paper

NM_001174089.2

p.F461L

c.1381T>C

1 paper

NM_001174089.2

p.F460_F461delins

c.1378_1381delinsA

1 paper

NM_032034.4

p.Y474*

c.1422T>G

1 paper

NM_032034.4

p.Y474*

c.1422T>A