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.N345_K346insT

c.1033_1037ins3

Surrounding Variants

2 papers

NM_000458.4

p.N345D

c.1033A>G

1 paper

NM_000458.4

p.N345_K346insFs

c.1035_1036insC

1 paper

NM_000458.4

p.P335_S342del8

c.1003_1025del24

1 paper

NM_000458.4

p.K346R

c.1037A>G

2 papers

NM_000458.4

p.P343S

c.1027C>T

2 papers

NM_000458.4

p.L347insFs

c.1040dupT

3 papers

NM_000458.4

p.S342F

c.1025C>T

1 paper

NM_000458.4

p.S348A

c.1042T>G

3 papers

NM_000458.4

p.S342P

c.1024T>C

2 papers

NM_000458.4

p.S348fs

c.1042_1043fs

1 paper

NM_000458.4

p.S341S

c.1023C>A

1 paper

NM_000458.4

p.S341_S348insFs

c.1022_1044dup23