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

4 papers

NM_175914.5

p.T326P

c.976A>C

Surrounding Variants

6 papers

NM_175914.5

p.I325M

c.975C>G

1 paper

NM_175914.5

p.I325I

c.975C>T

1 paper

NM_175914.5

p.T326I

c.977C>T

1 paper

NM_175914.5

p.I325F

c.973A>T

2 papers

NM_175914.5

p.W327*

c.980G>A

3 papers

NM_175914.5

p.W327*

c.981G>A

1 paper

NM_175914.5

p.Q328_Q334delFs

c.982_1001del20

1 paper

NM_175914.5

p.Q328*

c.982C>T

2 papers

NM_175914.5

p.Q323E

c.967C>G

1 paper

NM_175914.5

p.M329K

c.986T>A

1 paper

NM_175914.5

p.L322fs

c.964_965fs

1 paper

NM_001287183.2

p.L319_Q320ins0

c.956_958dupTGC