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.L322delins

c.964_965delinsAA

Surrounding Variants

1 paper

NM_175914.5

p.L322fs

c.964_965fs

1 paper

NM_001287183.2

p.L319_Q320ins0

c.956_958dupTGC

1 paper

NM_001287183.2

p.L319_Q320del1

c.956_958delTGC

1 paper

NM_175914.5

p.L322delFs

c.965delT

1 paper

NM_001287183.2

p.L319del1

c.955_956delTTG

1 paper

NM_175914.5

p.T321I

c.962C>T

2 papers

NM_175914.5

p.Q323E

c.967C>G

5 papers

NM_000457.6

p.L341P

c.1022T>C

NM_175914.5

p.L319P

c.956T>C

1 paper

NM_175914.5

p.I325F

c.973A>T

6 papers

NM_175914.5

p.I325M

c.975C>G

1 paper

NM_175914.5

p.I325I

c.975C>T

2 papers

NM_001287182.2

p.L315Q

c.944T>A

NM_175914.5

p.L318Q

c.953T>A