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_000267.3

p.L1541_N1542del2

c.4621_4625del6

Surrounding Variants

2 papers

NM_001042492.3

p.S1561I

c.4682G>T

1 paper

NM_001042492.3

p.S1561fs

c.4681_4682fs

1 paper

NM_001042492.3

p.L1562F

c.4684C>T

1 paper

NM_001042492.3

p.N1563_L1564delFs

c.4687_4691del5

3 papers

NM_001042492.3

p.W1559*

c.4677G>A

1 paper

NM_001042492.3

p.N1563_T1565del0

c.4689_4694del6

3 papers

NM_001042492.3

p.W1559*

c.4676G>A

1 paper

NM_000267.3

p.W1538_S1539delFs

c.4614_4615delGT

1 paper

NM_001042492.3

p.W1559fs

c.4675_4676fs

1 paper

NM_000267.3

p.W1538delFs

c.4614delG

1 paper

NM_001042492.3

p.L1564fs

c.4690_4691fs

2 papers

NM_001042492.3

p.H1558R

c.4673A>G