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.Q576fs

c.1726_1727fs

Surrounding Variants

1 paper

NM_001042492.3

p.Q576K

c.1726C>A

1 paper

NM_001042492.3

p.Q576E

c.1726C>G

5 papers

NM_001042492.3

p.Q576*

c.1726C>T

1 paper

NM_001042492.3

p.M577delFs

c.1729delA

2 papers

NM_001042492.3

p.Q576_M577delFs

c.1728_1729delAA

1 paper

NM_001042492.3

p.Q576R

c.1727A>G

3 papers

NM_001042492.3

p.S575*

c.1724C>A

3 papers

NM_001042492.3

p.S575*

c.1724C>G

1 paper

NM_001042492.3

p.M577fs

c.1729_1730fs

2 papers

NM_001042492.3

p.S575P

c.1723T>C

4 papers

NM_001042492.3

p.S575fs

c.1723_1724fs

3 papers

NM_001042492.3

p.S575fs

c.1723_1724fs