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.K513*

c.1537A>T

Surrounding Variants

1 paper

NM_001042492.3

p.K513fs

c.1537_1538fs

2 papers

NM_001042492.3

p.R512S

c.1536A>C

2 papers

NM_001042492.3

p.K513R

c.1538A>G

2 papers

NM_001042492.3

p.R512S

c.1536A>T

1 paper

NM_001042492.3

p.K513N

c.1539A>C

1 paper

NM_001042492.3

p.K513N

c.1539A>T

1 paper

NM_001042492.3

p.Q514del1

c.1540_1541delCAG

1 paper

NM_001042492.3

p.R512I

c.1535G>T

1 paper

NM_001042492.3

p.K513delFs

c.1539delA

2 papers

NM_001042492.3

p.R512*

c.1534A>T

1 paper

NM_001042492.3

p.R512fs

c.1534_1535fs

17 papers

NM_001042492.3

p.Q514fs

c.1540_1541fs