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.S1838fs

c.5512_5513fs

Surrounding Variants

1 paper

NM_001042492.3

p.S1838_H1842delFs

c.5513_5525del13

6 papers

NM_000267.3

p.S1817C

c.5450C>G

NM_001042492.3

p.S1838C

c.5513C>G

1 paper

NM_001042492.3

p.S1838F

c.5513C>T

1 paper

NM_000267.3

p.I1818delFs

c.5452_5453delAT

1 paper

NM_001042492.3

p.S1838_I1839delFs

c.5514_5517del4

3 papers

NM_001042492.3

p.S1838delFs

c.5513_5514delCT

1 paper

NM_001042492.3

p.S1838S

c.5514T>C

2 papers

NM_000267.3

p.I1818fs

c.5452_5453fs

NM_001042492.3

p.I1839fs

c.5515_5516fs

6 papers

NM_001042492.3

p.D1837N

c.5509G>A

1 paper

NM_001042492.3

p.P1836P

c.5508C>T

1 paper

NM_001042492.3

p.P1836_D1837Fs

c.5508_5509delinsTFs

1 paper

NM_001042492.3

p.I1839insFs

c.5516_5517insC