Varaico: Literature-Extracted Genetic Variants

HNF4A

904 papers

RefSeq Summary

The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 a...

Pfam Domains

zf-C4aa 58–127UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 172–361UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

hepatocyte nuclear factor 4 alpha

HGNC Previous Symbols

TCF14; MODY; MODY1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_175914.5

p.R309H

c.926G>A

NM_000457.6

p.R331H

c.992G>A

Surrounding Variants

4 papers

NM_175914.5

p.R309L

c.926G>T

6 papers

NM_175914.5

p.R309C

c.925C>T

1 paper

NM_175914.5

p.G310S

c.928G>A

1 paper

NM_175914.5

p.R311S

c.931C>A

3 papers

NM_175914.5

p.R311C

c.931C>T

1 paper

NM_000457.6

p.D329_G335delFs

c.987_1003del17

8 papers

NM_175914.5

p.R311H

c.932G>A

1 paper

NM_000457.6

p.R333P

c.998G>C

1 paper

NM_175914.5

p.D307Y

c.919G>T

3 papers

NM_175914.5

p.Y306*

c.918T>A

2 papers

NM_175914.5

p.Y306*

c.918T>G

1 paper

NM_175914.5

p.G313insFs

c.938dupG