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.T46S

c.136A>T

Surrounding Variants

2 papers

NM_175914.5

p.T46A

c.136A>G

1 paper

NM_175914.5

p.T46insFs

c.137_138insG

2 papers

NM_175914.5

p.T46delFs

c.138delG

1 paper

NM_175914.5

p.A45V

c.134C>T

4 papers

NM_175914.5

p.A45T

c.133G>A

NM_001287183.2

p.A42T

c.124G>A

3 papers

NM_175914.5

p.G47S

c.139G>A

4 papers

NM_175914.5

p.G47R

c.139G>C

1 paper

NM_175914.5

p.G47fs

c.139_140fs

1 paper

NM_175914.5

p.G47A

c.140G>C

1 paper

NM_175914.5

p.G47V

c.140G>T

1 paper

NM_175914.5

p.G47G

c.141C>A

1 paper

NM_175914.5

p.K48E

c.142A>G