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.N222Y

c.664A>T

Surrounding Variants

1 paper

NM_001042492.3

p.N222D

c.664A>G

1 paper

NM_001042492.3

p.N222fs

c.664_665fs

2 papers

NM_001042492.3

p.N222T

c.665A>C

1 paper

NM_001042492.3

p.N222S

c.665A>G

18 papers

NM_001042492.3

p.W221*

c.663G>A

1 paper

NM_001042492.3

p.W221C

c.663G>T

1 paper

NM_001042492.3

p.N222delFs

c.665delA

1 paper

NM_001042492.3

p.W223delFs

c.667delT

17 papers

NM_001042492.3

p.W221*

c.662G>A

1 paper

NM_001042492.3

p.W221S

c.662G>C

1 paper

NM_001042492.3

p.W221L

c.662G>T

6 papers

NM_001042492.3

p.W223R

c.667T>A