Varaico: Literature-Extracted Genetic Variants

HNF1B

880 papers

RefSeq Summary

This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nucl...

Pfam Domains

HNF-1_Naa 8–174UCSCHepatocyte nuclear factor 1 (HNF-1), N terminus

HNF-1B_Caa 288–438UCSCHepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus

Gene Aliases

HGNC Name

HNF1 homeobox B

HGNC Alias Symbols

LFB3; VHNF1; HNF1beta; MODY5; HNF1β

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000458.4

p.P159A

c.475C>G

Surrounding Variants

3 papers

NM_000458.4

p.P159S

c.475C>T

14 papers

NM_000458.4

p.P159L

c.476C>T

1 paper

NM_000458.4

p.P159fs

c.475_476fs

1 paper

NM_000458.4

p.P159delFs

c.476delG

1 paper

NM_000458.4

p.K156_T158insFs

c.466_472dup7

3 papers

NM_000458.4

p.T158N

c.473C>A

1 paper

NM_000458.4

p.M160fs

c.478_479fs

1 paper

NM_000458.4

p.T158fs

c.472_473fs

1 paper

NM_000458.4

p.M160L

c.478A>T

1 paper

NM_000458.4

p.T158S

c.472A>T

5 papers

NM_000458.4

p.M160V

c.478A>G

1 paper

NM_000458.4

p.M160L

c.478A>C