Varaico: Literature-Extracted Genetic Variants

NF1

4,584 papers

RefSeq Summary

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leuke...

Pfam Domains

RasGAPaa 1325–1451UCSCGTPase-activator protein for Ras-like GTPase

CRAL_TRIO_2aa 1602–1736UCSCDivergent CRAL/TRIO domain

PH_NF1aa 1737–1831UCSCPH domain-like

Gene Aliases

HGNC Name

neurofibromin 1

HGNC Alias Names

neurofibromatosis; von Recklinghausen disease; Watson disease

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001042492.3

p.H588Y

c.1762C>T

Surrounding Variants

1 paper

NM_001042492.3

p.H588N

c.1762C>A

1 paper

NM_001042492.3

p.H588fs

c.1762_1763fs

2 papers

NM_001042492.3

p.S587R

c.1761T>A

2 papers

NM_001042492.3

p.S587R

c.1761T>G

1 paper

NM_001042492.3

p.S587_H588ins4

c.1759_1763ins12

2 papers

NM_001042492.3

p.S587R

c.1759A>C

1 paper

NM_001042492.3

p.S587G

c.1759A>G

1 paper

NM_001042492.3

p.Q589K

c.1765C>A

1 paper

NM_001042492.3

p.Q589fs

c.1765_1766fs

1 paper

NM_001042492.3

p.Q589E

c.1765C>G

6 papers

NM_001042492.3

p.Q589*

c.1765C>T

3 papers

NM_001042492.3

p.M590delFs

c.1768delA