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.P534delFs

c.1602delT

Surrounding Variants

1 paper

NM_001042492.3

p.P534R

c.1601C>G

3 papers

NM_001042492.3

p.P534S

c.1600C>T

1 paper

NM_001042492.3

p.Q535fs

c.1603_1604fs

10 papers

NM_001042492.3

p.Q535*

c.1603C>T

2 papers

NM_001042492.3

p.Q535R

c.1604A>G

1 paper

NM_001042492.3

p.V533D

c.1598T>A

1 paper

NM_001042492.3

p.V533G

c.1598T>G

1 paper

NM_001042492.3

p.V533insFs

c.1599dupC

1 paper

NM_001042492.3

p.S536_P539del4

c.1606_1616del12

1 paper

NM_001042492.3

p.V533_P534del2

c.1597_1601del6

2 papers

NM_001042492.3

p.H537_M538delFs

c.1611_1612delCA

5 papers

NM_001042492.3

p.S536*

c.1607C>A