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

1 paper

NM_000458.4

p.N67Y

c.199A>T

Surrounding Variants

1 paper

NM_000458.4

p.N67N

c.201C>T

1 paper

NM_000458.4

p.G68V

c.203G>T

1 paper

NM_000458.4

p.H69N

c.205C>A

1 paper

NM_000458.4

p.H69fs

c.205_206fs

1 paper

NM_000458.4

p.H63_T64insFs

c.188_191dup4

1 paper

NM_000458.4

p.H69fs

c.205_206fs

1 paper

NM_000458.4

p.T64N

c.191C>A

1 paper

NM_000458.4

p.K59_T64delFs

c.175_190del16

1 paper

NM_000458.4

p.A70_K71insG

c.208_212ins3

2 papers

NM_000458.4

p.H69delFs

c.206_207delGT

3 papers

NM_000458.4

p.H63L

c.188A>T

2 papers

NM_000458.4

p.H63delFs

c.187delG