Varaico: Literature-Extracted Genetic Variants

HNF1A

2,115 papers

RefSeq Summary

The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrom...

Pfam Domains

HNF-1_Naa 8–168UCSCHepatocyte nuclear factor 1 (HNF-1), N terminus

HNF-1B_Caa 282–540UCSCHepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus

HNF-1A_Caa 542–630UCSCHepatocyte nuclear factor 1 (HNF-1), alpha isoform C terminus

Gene Aliases

HGNC Name

HNF1 homeobox A

HGNC Previous Symbol

MODY3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000545.8

p.Q541*

c.1621C>T

Surrounding Variants

1 paper

NM_000545.8

p.Q541R

c.1622A>G

1 paper

NM_000545.8

p.K540K

c.1620G>A

4 papers

NM_000545.8

p.Q541Q

c.1623G>A

1 paper

NM_000545.8

p.K540E

c.1618A>G

1 paper

NM_000545.8

p.K540*

c.1618A>T

1 paper

NM_000545.8

p.Q541del1

c.1621_1622delCAG

7 papers

NM_000545.8

p.Q541_V542Splc

c.1623+1G>A

1 paper

NM_000545.8

p.Q541_V542Splc

c.1623+1G>T

2 papers

NM_000545.8

p.Q541_V542Splc

c.1623+2T>C

1 paper

NM_000545.8

p.P538P

c.1614C>T

1 paper

NM_000545.8

p.P538fs

c.1612_1613fs

1 paper

NM_000545.8

p.T537insFs

c.1610_1611insAT