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

3 papers

NM_001042492.3

p.D1322V

c.3965A>T

Surrounding Variants

1 paper

NM_001042492.3

p.D1322N

c.3964G>A

1 paper

NM_001042492.3

p.D1322H

c.3964G>C

1 paper

NM_001042492.3

p.D1322Y

c.3964G>T

1 paper

NM_001042492.3

p.P1323delFs

c.3968delC

1 paper

NM_001042492.3

p.P1323fs

c.3967_3968fs

1 paper

NM_001042492.3

p.P1323_T1324insFs

c.3969_3970dupTA

2 papers

NM_001042492.3

p.P1323L

c.3968C>T

1 paper

NM_001042492.3

p.V1321A

c.3962T>C

1 paper

NM_001042492.3

p.V1321L

c.3961G>C

1 paper

NM_001042492.3

p.V1321L

c.3961G>T

1 paper

NM_001042492.3

p.E1320D

c.3960A>C

4 papers

NM_001042492.3

p.T1324A

c.3970A>G