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

1 paper

NM_175914.5

p.V34I

c.100G>A

Surrounding Variants

1 paper

NM_000457.6

p.V56D

c.167T>A

1 paper

NM_175914.5

p.G33S

c.97G>A

1 paper

NM_175914.5

p.L32V

c.94C>G

1 paper

NM_175914.5

p.S31R

c.93C>A

1 paper

NM_175914.5

p.A36insFs

c.107_108ins4

1 paper

NM_175914.5

p.S31R

c.93C>G

1 paper

NM_000457.6

p.A58A

c.174C>T

7 papers

NM_175914.5

p.S31N

c.92G>A

2 papers

NM_175914.5

p.S31T

c.92G>C

2 papers

NM_175914.5

p.S31I

c.92G>T

1 paper

NM_175914.5

p.S31R

c.91A>C

3 papers

NM_000457.6

p.L59L

c.175C>T

NM_175914.5

p.L37L

c.109C>T