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.R512_K513del2

c.1534_1538del6

Surrounding Variants

1 paper

NM_001042492.3

p.R512insFs

c.1534dupA

1 paper

NM_001042492.3

p.P511L

c.1532C>T

1 paper

NM_001042492.3

p.R512_G515del4

c.1534_1544del12

2 papers

NM_001042492.3

p.R512*

c.1534A>T

1 paper

NM_001042492.3

p.R512fs

c.1534_1535fs

2 papers

NM_001042492.3

p.N510T

c.1529A>C

4 papers

NM_001042492.3

p.N510S

c.1529A>G

1 paper

NM_001042492.3

p.R512I

c.1535G>T

1 paper

NM_001042492.3

p.K513delFs

c.1539delA

1 paper

NM_001042492.3

p.N510fs

c.1528_1529fs

2 papers

NM_001042492.3

p.R512S

c.1536A>C

2 papers

NM_001042492.3

p.R512S

c.1536A>T